ライフサイエンスコーパス: syndromic

1 ike many other neurocristopathies, it is not syndromic.

2 ogenesis imperfecta (AI), can be isolated or syndromic.

3 Patients were subdivided into those with syndromic (344 patients) and nonsyndromic (352 patients)

4 DA, 24.8% (28 of 113 cases solved); other or syndromic, 37.5% (3 of 8 cases solved); RET, 42.8% (21 o

5 irst missense mutation causing isolated, non-syndromic 46,XX testicular/ovotesticular DSD in humans.

6 ons are typically managed by WHO-recommended syndromic algorithms in resource-poor countries, and pre

7 dence for a continuum between rare monogenic syndromic and common polygenic forms of obesity.

8 Despite etiological heterogeneity, >/=68% of syndromic and idiopathic ASD cases shared a common acety

9 that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans and provide

10 atic mosaicism (DoSM) are a diverse group of syndromic and non-syndromic conditions caused by mosaic

11 ations in TCF12, a locus also known to cause syndromic and non-syndromic craniosynostosis.

12 c variants enabled us to distinguish between syndromic and non-syndromic fetal anomalies (eg, congeni

13 ) and connexin 30 (Cx30) have been linked to syndromic and non-syndromic hearing loss in mice and hum

14 ome, Nicolaides-Baraitser syndrome, or other syndromic and non-syndromic NDDs.

15 A variety of syndromic and non-syndromic neurodevelopmental disorders

16 search reveals points of convergence between syndromic and nonsyndromic autism spectrum disorders, we

17 n of retinal disease differs greatly between syndromic and nonsyndromic CLN3 disease, which may be as

18 threatening condition that can occur in both syndromic and nonsyndromic congenital heart disease.

19 genital infections, genetic causes including syndromic and nonsyndromic etiologies, and trauma, among

20 ry factor 6 ( IRF6) are associated with both syndromic and nonsyndromic forms of cleft lip/palate (CL

21 for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.

22 ) and connexin 30 (Cx30) have been linked to syndromic and nonsyndromic hearing loss in mice and huma

23 ve been identified in port wine stains (both syndromic and nonsyndromic) and melanocytic ocular neopl

24 strate related pathophysiology of common non-syndromic and rare syndromic craniosynostoses.

25 RCBTB1 as a cause of autosomal-recessive non-syndromic and syndromic iRD.

26 Most used the syndromic approach for STI management.

27 undiagnosed despite an updated comprehensive syndromic approach.

28 confirmed in two additional mouse models of syndromic ASD (Pten(m3m4/m3m4) and Mecp2(tm1.1Bird)).

29 CNV's) were overrepresented in children with syndromic ASD and if mGluR "second hit" confers addition

30 use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeling g

31 us, in this small trial of children with non-syndromic ASD and language impairment, treatment with hi

32 their associated signaling network genes in syndromic ASD is unknown.

33 Using a syndromic ASD model, e.g., Black and Tan BRachyury T(+)I

34 Notably, DEGs from syndromic ASD mouse models and reduced deconvoluted OL n

35 Syndromic ASD was more prevalent in children with mGluR

36 gether, these results implicate GLRA2 in non-syndromic ASD, unveil a novel role for GLRA2 in synaptic

37 whether mGluR network CNV'S are enriched in syndromic ASD, we examined microarrays from children wit

38 vivo insights into the pathophysiology of a syndromic ASD.

39 uencing and may reveal otherwise unsuspected syndromic associations.

40 Human neurons carrying the syndromic autism mutation NLGN4-R704C also formed more e

41 NA- and mRNA-binding proteins, including the syndromic autism protein FMRP, move in basal processes a

42 es verbal communication in children with non-syndromic autism spectrum disorder (ASD) and language im

43 es were enriched for genes implicated in non-syndromic autism spectrum disorder (ASD) and were differ

44 The syndromic autism spectrum disorder (ASD) Timothy syndrom

45 Syndromic autism spectrum disorders represent a group of

46 gnatures associated with both idiopathic and syndromic autism.

47 ruption of TRPC6, a cation channel, in a non-syndromic autistic individual.

48 tations contribute to both syndromic and non-syndromic AVSDs in humans and provide a model that predi

49 esponse to an environmental trigger, whereas syndromic BA (BASM) has associated malformations and is

50 C12A2 variants in three individuals with non-syndromic bilateral sensorineural hearing loss and vesti

51 After exclusion of BRCA1, BRCA2, and syndromic breast cancer genes (CDH1, PTEN, and TP53), ob

52 ndromes that may include CAKUT as a feature (syndromic CAKUT) or cause renal diseases that may manife

53 obtained from infants who met a standardized syndromic case definition and tested for Bordetella pert

54 mic disease to find genes accounting for non-syndromic cases may prove broadly relevant to understand

55 c CS have been identified, the cause of many syndromic cases remains unknown.

56 Syndromic cases, featuring additional congenital anomali

57 sment of all other prespecified outcomes and syndromic categories did not reveal that PsA-TT was cons

58 ssociated neuropathy with one of three major syndromic categories: (1) ataxia, (2) spasticity and (3)

59 ogies, which are currently based on a single syndromic cause for each death, will be strengthened by

60 dysregulates a number of genes enriched for syndromic causes of autism and intellectual disability a

61 ome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-

62 When removing three known syndromic CHD genes, the findings remained significant (

63 Patients with syndromic CIDs had a significantly lower 5-year survival

64 However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-

65 localization and common cystic phenotypes in syndromic ciliopathies, but their relevance is questione

66 e seven individuals from seven families with syndromic ciliopathy clinical features, including severe

67 with rare atypical orofacial clefts and with syndromic cleft lip and/or palate (CL/P).

68 Non-syndromic cleft lip and/or palate (NSCLP) is a common co

69 Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P),

70 , a locus identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS CL/

71 Non-syndromic cleft lip with palate (NSCLP) is the most seri

72 tional defects than variants associated with syndromic clefting.

73 een identified in patients with atypical and syndromic clefts.

74 f a large family with autosomal dominant non-syndromic coloboma.

75 dominant Sorsby fundus dystrophy (SFD) as a syndromic condition including late-onset pulmonary disea

76 have been shown to cause a range of largely syndromic conditions affecting the competency of the bas

77 ons (SCNAs) are of significant importance in syndromic conditions and cancer.

78 SM) are a diverse group of syndromic and non-syndromic conditions caused by mosaic variants in genes

79 ajor impact on the differential diagnosis of syndromic congenital IRD, which has previously been excl

80 Syndromic congenital tufting enteropathy (CTE) is a life

81 feedback loops, leading to a self-sustained syndromic constellation.

82 henotypes of affected individuals range from syndromic coronal craniosynostosis to severe growth rest

83 s are more likely to cause nonsyndromic than syndromic CPO.

84 In humans, syndromic craniofacial malformations often accompany jaw

85 Mutations causing rare syndromic craniosynostoses in humans and engineered mous

86 ophysiology of common non-syndromic and rare syndromic craniosynostoses.

87 Non-syndromic craniosynostosis (NSC) is a frequent congenita

88 Lambdoid craniosynostosis (LC) is a rare non-syndromic craniosynostosis characterised by fusion of th

89 w articulations that are associated with non-syndromic craniosynostosis conditions have statistically

90 More than 100 known mutations may cause syndromic craniosynostosis, but the majority of cases ar

91 locus also known to cause syndromic and non-syndromic craniosynostosis.

92 fants <6 months of age who fulfilled a broad syndromic criteria of respiratory illness were tested fo

93 Diagnosis is based on consensus syndromic criteria, with modifications for under-resourc

94 We performed exome sequencing of 12 syndromic CS cases and their parents, in whom previous g

95 While many genes underlying syndromic CS have been identified, the cause of many syn

96 the value of performing exome sequencing of syndromic CS patients when sequencing of known disease l

97 provide evidence implicating other genes in syndromic CS.

98 pathways have previously been implicated in syndromic CS.

99 variant in HSCB in a female patient with non-syndromic CSA.

100 determine the genetic cause for non-GC-C non-syndromic CSD in 18 patients from 16 unrelated families

101 s protein complexes affected in two forms of syndromic deafness and suggests a molecular function for

102 sferase (TOMT/LRTOMT) is responsible for non-syndromic deafness DFNB63.

103 a consanguineous family with congenital non-syndromic deafness, we unexpectedly identified a homozyg

104 .2 region and is responsible for most of the syndromic defects, exhibit inner ear defects and hyperac

105 Here we describe a new syndromic developmental and epileptic encephalopathy cau

106 13, and MED13L were previously identified in syndromic developmental disorders with overlapping pheno

107 ted between genes implicated in monogenic or syndromic diabetes and genes lying within genomic region

108 er-represented among both known monogenic or syndromic diabetes genes and genes within T2D-associated

109 they artificially fragment APNS into siloed, syndromic diagnoses unmoored to discrete components of b

110 ltiplex, nucleic acid amplification test for syndromic diagnosis of infectious gastroenteritis.

111 tions for the progressive and better use of (syndromic) diagnostics during a possible resurgence of C

112 iduals and many CNVs associate causally with syndromic disease and clinical outcomes.

113 domain of LAMA5 in a patient with a complex syndromic disease characterised by defects in kidney, cr

114 ally, the use of pathways identified in rare syndromic disease to find genes accounting for non-syndr

115 mutations in genes previously implicated in syndromic disease.

116 -inducing GJB2 mutations lead to more severe syndromic disease.

117 A multiorgan syndromic disorder characterized by sideroblastic anemia

118 t immune function, we identified mice with a syndromic disorder marked by growth retardation, diabete

119 elopment and cause a previously unrecognized syndromic disorder.

120 underlie a pleiotropic group of diseases and syndromic disorders termed ciliopathies, which affect ma

121 h life-threatening congenital malformations, syndromic disorders, neurometabolic diseases, or any alt

122 single gene defects highlight the concept of syndromic EB.

123 Deaths are attributed to these syndromic entities in these select populations when othe

124 ma has been consistently observed within non-syndromic families.

125 is of microcephaly in AS, a highly penetrant syndromic feature with early postnatal onset, we would g

126 acute aortic dissections but who do not have syndromic features have a family history of thoracic aor

127 Physical examination showed no syndromic features or physical abnormalities.

128 Because many patients lack overt syndromic features, genetic testing plays an important r

129 ither an isolated finding or with additional syndromic features.

130 ilies in whom iRD segregates with or without syndromic features.

131 us to distinguish between syndromic and non-syndromic fetal anomalies (eg, congenital heart disease

132 ian inherited CTNNB1 mutations can cause non-syndromic FEVR and that FEVR can be a part of the syndro

133 probands shows that some of them have subtle syndromic findings, while none of them meets clinical cr

134 studies support that WDR72 mutations cause a syndromic form of AI and improve our ability to diagnose

135 e conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental def

136 se models of Pitt-Hopkins syndrome (PTHS), a syndromic form of ASD caused by mutations in the TCF4 ge

137 odeletions of the MEF2C gene are linked to a syndromic form of autism termed MEF2C haploinsufficiency

138 omain mutations (V679A and R695H) in a novel syndromic form of birth defects.

139 we recently described four cases of the non-syndromic form of CSD that were caused by dominant activ

140 h Hartsfield syndrome, a clinically distinct syndromic form of holoprosencephaly (HPE) with ectrodact

141 stability, and cause an autosomal-recessive syndromic form of ID.

142 ntified in the THOC6 gene in patients with a syndromic form of intellectual disability [Beaulieu-Boyc

143 We report 2 siblings with a syndromic form of JRRP associated with mild dermatologic

144 lts demonstrate that an autosomal recessive, syndromic form of JRRP can be associated with an NLRP1 G

145 A common syndromic form of orofacial clefting is Van der Woude sy

146 ons in SEC61A1 lead to an autosomal-dominant syndromic form of progressive chronic kidney disease.

147 esults indicate that SGPL1 mutations cause a syndromic form of SRNS.

148 Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive

149 er, the genetic cause of the more common non-syndromic forms is unknown.

150 entially expressed in patients with distinct syndromic forms of ASD, fragile X syndrome, and 15q dupl

151 ed in subjects with sporadic as well as rare syndromic forms of ASD.

152 ticity (PSDSP) are a hallmark of a number of syndromic forms of autism; in the present work, we explo

153 er Woude and popliteal pterygium syndrome, 2 syndromic forms of cleft lip and palate.

154 Both genes underlie different syndromic forms of CPO.

155 iew the phenotypic and genotypic features of syndromic forms of EB to delineate the concept of syndro

156 stub1, a gene that is both mutated in other syndromic forms of IGD and maps to a TCF12 affinity netw

157 in two distinct and clinically recognizable syndromic forms of intellectual disability with contrast

158 B2 or ATRX cause phenotypically overlapping, syndromic forms of NDDs with severe intellectual disabil

159 tis-determining gene, SRY Other rare complex syndromic forms of TDSD/OTDSD are associated with mutati

160 e, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of

161 henotypes ranging from isolated RP to severe syndromic forms.

162 phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessive a

163 There were 12 of 24 syndromic genes definitively associated with isolated le

164 Syndromic genetic conditions, in aggregate, affect 8% of

165 Optic neuropathies may range from non-syndromic genetic entities, to rare syndromic multisyste

166 xpression in 48% and 90% of sporadic and NF1-syndromic GISTs, respectively, and in three of eight mic

167 mutations in 17% and 50% of sporadic and NF1-syndromic GISTs, respectively, and we find loss of MAX p

168 y congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years

169 ustralian family with autosomal dominant non-syndromic hearing loss (ADNSHL).

170 The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high

171 Over 100 non-syndromic hearing loss genes have been identified in mou

172 Given that most autosomal-dominant non-syndromic hearing loss in humans is caused by this mecha

173 (Cx30) have been linked to syndromic and non-syndromic hearing loss in mice and humans.

174 exposure or any other clinical features (non-syndromic hearing loss).

175 s lead to early-onset autosomal dominant non-syndromic hearing loss, familial thoracic aortic aneurys

176 trophy, mental retardation, seizures) to non-syndromic hearing loss.

177 The syndromic heterogeneity of major depressive disorder (MD

178 the first time that AMTN mutations cause non-syndromic human AI and explores the human phenotype, com

179 n the Beethoven mouse, a murine model of non-syndromic human deafness caused by a dominant gain-of-fu

180 aling new mechanisms and candidate genes for syndromic human disease.

181 Studies of syndromic hydrocephalus have led to the identification o

182 omic FEVR and that FEVR can be a part of the syndromic ID phenotype, further establishing the role th

183 fected by an autosomal-dominant form of mild syndromic ID with ptosis, growth retardation, and hypoto

184 ions in the last and penultimate exons cause syndromic ID, which provides additional insight into the

185 sion of critical immune proteins, yielding a syndromic immune disorder.

186 tis in patients harboring known variants for syndromic inflammatory diseases.

187 at tracking laboratory-confirmed cases than syndromic influenza-like illness (ILI) cases.

188 ygous de novo CTNNB1 mutations as a cause of syndromic intellectual disability (ID) and autism spectr

189 ly conserved TREX mRNA-export complex, cause syndromic intellectual disability (ID).

190 sufficiency of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be

191 otor and sensory dysfunctions as well as non-syndromic intellectual disability in humans.

192 ted children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic tes

193 use of autosomal-recessive non-syndromic and syndromic iRD.

194 isorders has potential to extract meaningful syndromic knowledge from large, heterogeneous data sets

195 and anomalies in MT behavior and describe a syndromic LCA unrelated to ciliary dysfunction.

196 The canine disease is a non-syndromic LCA-ciliopathy, with normal renal structures a

197 NAT1 have been previously shown to cause non-syndromic Leber congenital amaurosis (LCA).

198 hlight the effects of CNVs at two well-known syndromic loci 16p11.2 and 22q11.2, previously uncharact

199 In humans, over 150 non-syndromic loci have been identified, and there are more

200 associated domains (TADs) encompassing known syndromic loci.

201 Syndromic management is common, yet little is known abou

202 ften asymptomatic in women and undetected by syndromic management, leading to complications such as p

203 matic CT/NG infections missed by traditional syndromic management.

204 is cohort, we identify 15 case subjects with syndromic Mendelian disorders, 12 case subjects with imp

205 SP9X, a deubiquitylase associated with human syndromic mental retardation.

206 It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopath

207 d cytokinesis in the etiology of primary and syndromic microcephaly, as has been proposed by recent f

208 dentify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosi

209 genes/loci responsible for nonsyndromic and syndromic monofactorial obesity.

210 from non-syndromic genetic entities, to rare syndromic multisystem diseases with optic atrophy such a

211 y, heteromeric oligomer formed by Cx43/Cx26 (syndromic mutants) shows exacerbated hemichannel activit

212 novel interactions that are known to harbor syndromic mutations in neurodevelopmental disorders.

213 ponent, the genetic aetiology leading to non-syndromic MVP has remained elusive.

214 rge multigenerational family segregating non-syndromic MVP underwent capture sequencing of the linked

215 genic and may expand the phenotypic range of syndromic nanophthalmos caused by MYRF mutations to incl

216 raitser syndrome, or other syndromic and non-syndromic NDDs.

217 h extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date

218 Here, we report a syndromic neonatal encephalopathy characterized by profo

219 athogenic role of BPTF haploinsufficiency in syndromic neurodevelopmental anomalies and extend the cl

220 e novo missense LoF variant revealed a novel syndromic neurodevelopmental disorder associated with se

221 ameshift) in CDH2 in nine individuals with a syndromic neurodevelopmental disorder characterized by g

222 uggest that variants in CAPZA2 lead to a non-syndromic neurodevelopmental disorder in children.

223 towards a disease-modifying treatment for a syndromic neurodevelopmental disorder.

224 s, and deleterious CDK19 variants underlie a syndromic neurodevelopmental disorder.

225 6p11.2 chromosomal locus are associated with syndromic neurodevelopmental disorders and reciprocal ph

226 A variety of syndromic and non-syndromic neurodevelopmental disorders have been connect

227 CDC42 mutations had been associated with syndromic neurodevelopmental disorders.

228 gest that variants in WDR37 underlie a novel syndromic neurological disorder.

229 anslation protein-targeting pathway, lead to syndromic neutropenia with a Shwachman-Diamond-like phen

230 the X chromosome, in 5 males with a variably syndromic, normocytic CSA.

231 f SPECC1L deficiency also contributed to non-syndromic (ns) CL/P.

232 Non-syndromic (NS) cleft lip with or without cleft palate (C

233 We hypothesized that monogenic syndromic obesity genes are also involved in the polygen

234 is were performed on common variants near 54 syndromic obesity genes.

235 eostasis and is an important drug target for syndromic obesity.

236 enes to amylogenesis imperfecta (AI) and non-syndromic oculocutaneous albinism (OCA6), respectively.

237 cohort of 145 unrelated individuals with non-syndromic oligodontia, we identified three additional mu

238 is, 32% with familial disease, and 9% with a syndromic or metabolic diagnosis.

239 N, N54K, M163V, and S183F) linked to various syndromic or nonsyndromic diseases to uncover the molecu

240 LP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most c

241 46 patients with follow-up (mean 3.6 years) syndromic overlap increased with time.

242 of this article is to critically discuss the syndromic overlap that exists between early behavioural

243 Although enteric multianalyte syndromic panels are increasingly employed, direct compa

244 CD in the cardiac tissues of the cardiorenal syndromic patients and the effect of inhibiting MYOCD in

245 In the analysis of 1835 syndromic patients, screened by real time RT-PCR, 56.4%

246 plitudes that were significantly higher than syndromic patients, suggesting superior residual cone fu

247 been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations.

248 mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparen

249 ity, may therefore result in an intermediate syndromic phenotype with respect to LCA and lethality.

250 ions in USH2A was associated mostly with the syndromic phenotype, whereas other combinations were pre

251 rade neuroendocrine tumor as part of the TSC syndromic phenotype.

252 e sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM, l

253 amilies sharing a common recognizable lethal syndromic polymicrogyria of autosomal recessive inherita

254 m and should be screened in individuals with syndromic pontocereballar hypoplasia.

255 ntile) who were diagnosed later and had less syndromic presentation but additional autoimmune feature

256 While comorbidities such as classically syndromic presentation or immune deficiency are often pr

257 Syndromic primary immunodeficiencies are rare genetic di

258 Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally

259 members were diagnosed with early onset non-syndromic progressive retinal degeneration and the prese

260 r revealing the underlying neurobiology than syndromic psychiatric classification.

261 essionals with interim recommendations about syndromic recognition and initial treatment based on bot

262 odeling data delineate an autosomal-dominant syndromic retinal ciliopathy in humans and suggest that

263 tions in genes traditionally associated with syndromic retinal disease are increasingly found to caus

264 which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent finding

265 equencing in an individual affected with non-syndromic RP revealed two plausibly disease-causing vari

266 d also contribute to autosomal recessive non-syndromic RP.

267 eurodevelopmental disorder and bilateral non-syndromic sensorineural hearing loss and provide further

268 Findings were unchanged when syndromic severe acute respiratory infection criteria we

269 This is the first report of a syndromic SFD in line with the mouse model uncovering th

270 The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is

271 za-like illness (ILI) is a commonly measured syndromic signal representative of a range of acute resp

272 Certain syndromic signatures were identified: pain and temperatu

273 of the algorithms, when trained to recognize syndromic similarity (rather than specific syndromes) in

274 everal rare genetic disorders, including non-syndromic skin-limited diseases.

275 The identification of a syndromic stationary congenital IRD has a major impact o

276 We considered how participatory syndromic surveillance data can be used to estimate infl

277 Our findings demonstrate that participatory syndromic surveillance data can be used to gauge influen

278 Syndromic surveillance data from Illinois showed that th

279 pplied a precision public health strategy to syndromic surveillance for severe acute respiratory infe

280 Syndromic surveillance is the real-time collection and i

281 Influenzanet, a participatory system for the syndromic surveillance of influenza-like illness (ILI) i

282 Syndromic surveillance revealed a marked decline in gast

283 We believe that this type of syndromic surveillance system could improve the surveill

284 lu Near You (FNY) is an online participatory syndromic surveillance system that collects health relat

285 n this paper we describe the first real-time syndromic surveillance system that conducts integrated s

286 data structures encountered within the daily syndromic surveillance systems used by PHE.

287 out-of-hours, and emergency department (ED) syndromic surveillance systems were used to monitor GP c

288 s of this new vaccine program using national syndromic surveillance systems.

289 ee detection algorithms extensively used for syndromic surveillance: the 'rising activity, multilevel

290 el V2 (RP) is a novel molecular-method-based syndromic test for the simultaneous and rapid (~70-min)

291 e of the QIAstat-Dx system compared to other syndromic testing systems, including the ePlex RPP assay

292 kely pathogenic in 2 families with suspected syndromic tooth agenesis.

293 celerated discovery of genes associated with syndromic traits, the majority of families affected by s

294 sly reported severe visual phenotype seen in syndromic USH2A patients could relate to a greater exten

295 s previously implicated in specific types of syndromic uveitis-such as NOD2 (Blau syndrome) and CAPN5

296 Irrespective of PPA syndromic variant, single-word comprehension impairment

297 omic forms of EB to delineate the concept of syndromic versus nonsyndromic skin fragility disorders.

298 Patient categorization (syndromic vs nonsyndromic) was done via blinded medical

299 Chordin-Like 1 (CHRDL1) mutations cause non-syndromic X-linked megalocornea (XMC) characterized by e

300 a spectrum of RLIM missense variants causing syndromic XLID and affecting the ubiquitin ligase activi