ライフサイエンスコーパス: dysmorphic

1 he expected Mendelian frequency and were non-dysmorphic.

2 d to the RPE before which RPE cells appeared dysmorphic.

3 delivery of an inhibitor results in a highly dysmorphic AER, reduction in overall limb size, loss of

4 omplex and characterized by inflammation and dysmorphic airspaces and vasculature.

5 ions on membrane properties and the profound dysmorphic and cognitive abnormalities associated with g

6 r defects in coronary development, including dysmorphic and distended vessels along the atrioventricu

7 IPF patients exhibit marked accumulation of dysmorphic and dysfunctional mitochondria.

8 Morphant hearts were hypoplastic and dysmorphic and exhibited significantly reduced ventricul

9 rms in the absence of the endocardium but is dysmorphic and exhibits a weak contractility.

10 e loss of fertility associated with immobile dysmorphic and fewer sperm cells after 5 months of age.

11 morphologically intact connecting cilia but dysmorphic and misoriented outer segment (OS) discs, at

12 tegorize 325 Canadian children with ASD into dysmorphic and nondysmorphic subgroups.

13 anterior pituitary gland appears bifurcated, dysmorphic and occasionally ectopically misplaced in the

14 ons of the stratum corneum, characterized by dysmorphic and pleomorphic corneocytes and the absence o

15 n carriers, the most prominent features were dysmorphic and thicker corpora callosa compared with fam

16 In familial cases, the dysmorphic and/or neurodegenerative components of the ph

17 patopancreatic ductal epithelium is severely dysmorphic, and cells of the hepatopancreatic ductal sys

18 s, and that morphants exhibit diminished and dysmorphic arch cartilage elements due to reductions in

19 Probands with dysmorphic ASD have a significantly higher GRVS compared

20 r understanding of the genetic basis of some dysmorphic ASDs, little progress has been made in transl

21 Dysmorphic basal ganglia are the hallmark of tubulinopat

22 Dysmorphic basal ganglia with an abnormal internal capsu

23 ks after birth, mTOR-deficient islets became dysmorphic, beta-cell maturation and function were impai

24 Patients exhibit short stature, dysmorphic bones, and severe growth plate abnormalities,

25 The dysmorphic capillaries were frequently in the interior o

26 epletion in zebrafish resulted in larger and dysmorphic cardiomyocytes, pericardial effusion, impaire

27 ce at 12 weeks contained a high frequency of dysmorphic cells, including cells with an aberrant nucle

28 as evident by PECAM staining, accompanied by dysmorphic changes.

29 abnormality characterized by an expansion of dysmorphic cholangiocytes inside and around portal space

30 d levels of Sef, with 13% exhibiting grossly dysmorphic cochlear nuclei and 26% showing decreased amo

31 ales mated to BW males produce overgrown but dysmorphic conceptuses.

32 ive series of 728 patients who completed the Dysmorphic Concern Questionnaire in an oculofacial surge

33 Obsessive-Compulsive Inventory-Revised, the Dysmorphic Concern Questionnaire, the Hoarding Rating Sc

34 All participants completed the Dysmorphic Concerns Questionnaire (DCQ), Perceived Stres

35 Self-reports of interoceptive awareness and dysmorphic concerns were also measured.

36 disorders, and no physical, neurological, or dysmorphic conditions co-occurred with psychiatric sympt

37 The Deltaace2 mutant had dysmorphic conidiophores, reduced conidia production and

38 found with cytomegaly in isolated groups of dysmorphic cortical neurons.

39 Adult rspo3(-/-) zebrafish mutants exhibit a dysmorphic cranial skeleton and decreased average tooth

40 nucleus and cytoplasm and the appearance of dysmorphic dendrites, predicted the onset and severity o

41 ritic spine density and prevent formation of dysmorphic dendritic spines.

42 ulation as a novel mechanism contributing to dysmorphic dendritogenesis associated with heritable and

43 ta have indicated that individuals with body dysmorphic disorder (BDD) have high rates of suicidal id

44 Body dysmorphic disorder (BDD) is a psychiatric disorder in w

45 Body dysmorphic disorder (BDD) is a severe psychiatric condit

46 Body dysmorphic disorder (BDD) is an obsessive-compulsive dis

47 Body Dysmorphic Disorder (BDD) is an underexplored psychiatri

48 Body dysmorphic disorder (BDD) is characterized by preoccupat

49 Body dysmorphic disorder (BDD) is characterized by preoccupat

50 Body dysmorphic disorder (BDD) is thought to be associated wi

51 Research on the pharmacotherapy of body dysmorphic disorder (BDD), a common and often disabling

52 This study investigated the course of body dysmorphic disorder (BDD), a relatively common and sever

53 Obsessive Compulsive Scale Modified for Body Dysmorphic Disorder (BDD-YBOCS) (the primary outcome mea

54 Body dysmorphic disorder (preoccupation with an imagined or s

55 notes of 100 consecutive patients with body dysmorphic disorder and compared with the same informati

56 ve than desipramine in the treatment of body dysmorphic disorder and is effective even among those pa

57 hypothesized that because patients with body dysmorphic disorder are preoccupied with their appearanc

58 timated the overall point prevalence of body dysmorphic disorder as 0.7% in women in this age range i

59 Twenty percent of the patients with body dysmorphic disorder had an occupation or education in ar

60 The prevalence of body dysmorphic disorder in an oculofacial surgical setting m

61 Muscle dysmorphia is a form of body dysmorphic disorder in which individuals develop a patho

62 Body dysmorphic disorder is common, distressing, and often se

63 eir estimate of the point prevalence of body dysmorphic disorder is consistent with data from a commu

64 Onset of body dysmorphic disorder is usually gradual during adolescenc

65 Adults (N=100) with DSM-IV body dysmorphic disorder received open-label escitalopram for

66 Body dysmorphic disorder severity (in both the intent-to-trea

67 ere no significant group differences in body dysmorphic disorder severity or insight, depressive symp

68 Among escitalopram-treated subjects, body dysmorphic disorder severity significantly decreased ove

69 Body dysmorphic disorder severity significantly improved duri

70 e measures included specific ratings of body dysmorphic disorder severity, delusionality, and functio

71 o desipramine in the acute treatment of body dysmorphic disorder symptoms as measured by assessment o

72 sible explanation is that patients with body dysmorphic disorder tend to have an interest in aestheti

73 Patients screening positively for body dysmorphic disorder tend to have higher postoperative pa

74 The authors found that the presence of body dysmorphic disorder was linked to the presence of major

75 The presence of body dysmorphic disorder was significantly associated with th

76 Rates and diagnostic correlates of body dysmorphic disorder were examined by using data from the

77 uals with diagnoses of dysmorphophobia (body dysmorphic disorder) assigned during the same period wer

78 amined the prevalence and correlates of body dysmorphic disorder, a debilitating and chronic conditio

79 ulsive disorder (OCD), 20 patients with body dysmorphic disorder, and 10 patients with mood disorder

80 euptake inhibitors may be effective for body dysmorphic disorder, to date no controlled treatment stu

81 m the first relapse prevention study in body dysmorphic disorder.

82 >/=9 was used as a positive screen for body dysmorphic disorder.

83 enesis genes have been defined in multiorgan dysmorphic disorders in which renal dysplasia can featur

84 ung PINK1-deficient mice developed similarly dysmorphic, dysfunctional mitochondria in the AECIIs and

85 less, about 10% of the cohort were minimally dysmorphic (dysmorphology scores <=2), had isolated CHD,

86 arval development, the Op is fused along the dysmorphic edge to adjacent dermal bones.

87 n and migration, defective angiogenesis, and dysmorphic endothelial tube network formation.

88 1) Renal remission (defined as < 10 dysmorphic erythrocytes per high-power field, the absenc

89 ydactylous digits are all similar, short and dysmorphic, even though endogenous 5'Hoxd genes are broa

90 ng to prenatal death in hemizygous males and dysmorphic faces and brain malformations, with polycysti

91 f low birth weight, severe microcephaly, and dysmorphic facial appearance with receding forehead, pro

92 re, genetically heterogeneous disorder, with dysmorphic facial appearance, growth retardation, microc

93 al defects of the spine, brachydactyly and a dysmorphic facial appearance.

94 ented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, s

95 features of the 9p-deletion syndrome include dysmorphic facial features (trigonocephaly, midface hypo

96 iomarkers, and the infrequency of diagnostic dysmorphic facial features among individuals with fetal

97 ifferentiated by the presence of significant dysmorphic facial features and a more severe grade of li

98 ility, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentati

99 velop diverse phenotypes including seizures, dysmorphic facial features and cleft palate through an u

100 She showed dysmorphic facial features and developmental delay, but

101 linked to HPE and to a characteristic set of dysmorphic facial features in humans.

102 Mildly dysmorphic facial features including hypotelorism, long

103 to craniofacial defects possibly akin to the dysmorphic facial features seen in individuals harboring

104 Dysmorphic facial features were analyzed using GestaltMa

105 brachycephaly, congenital heart defects, and dysmorphic facial features with hypertelorism, synophrys

106 lectual disability, developmental delay, and dysmorphic facial features with variably penetrant autis

107 ilies affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmonary involvem

108 ois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.

109 here include structural brain malformations, dysmorphic facial features, and neonatal polycythemia.

110 affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such

111 nt, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures.

112 rome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-ta

113 sproportionate short stature, brachydactyly, dysmorphic facial features, developmental delay, and var

114 r had severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched p

115 rt of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasi

116 tiple malformation disorder characterized by dysmorphic facial features, mental retardation, growth d

117 lization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic

118 autosomal dominant disorder characterized by dysmorphic facial features, proportionate short stature

119 Although all individuals had at least mild dysmorphic facial features, there was no characteristic

120 al gyration, corpus callosum hypoplasia, and dysmorphic facial features, we identified a homozygous s

121 of epilepsy, behavioral problems, and mildly dysmorphic facial features.

122 language, autistic-like behavior, and mildly dysmorphic facial features.

123 sability, neurobehavioral abnormalities, and dysmorphic facial features.

124 ement abnormalities; hypotonia; and variable dysmorphic facial features.

125 Moreover, many individuals shared similar dysmorphic facial features.

126 , feeding difficulties, deafness, and subtle dysmorphic facial features.

127 tinal, and growth problems as well as common dysmorphic facial features.

128 lity, global developmental delay, and mildly dysmorphic facial features.

129 y/Peters anomaly, coloboma, and microcornea; dysmorphic facial features; significant neurological imp

130 d vertebrae, abnormal spinal curvatures, and dysmorphic facial/calvarial bones, similar to the human

131 lcification, and an overgrowth disorder with dysmorphic facies and psychosis, none of which overlaps

132 lar atrophy, walking and speech impairments, dysmorphic facies, and neutropenia.

133 cribe five affected individuals with similar dysmorphic facies, and three of them had either complete

134 ing abnormalities of the brain and skeleton, dysmorphic facies, brachydactyly, seizures, and hypoplas

135 Classic features are dysmorphic facies, conotruncal cardiac defects, hypocalc

136 d proximal weakness, scoliosis, rigid spine, dysmorphic facies, cutaneous involvement, respiratory fa

137 tic multi-organ developmental abnormalities, dysmorphic facies, limb malformations and mental retarda

138 hypotonia, limb spasticity, muscle wasting, dysmorphic facies, optic atrophy, leuko-axonopathy with

139 der, vision problems, bone abnormalities and dysmorphic facies.

140 6/6), refractory seizures (5/6), and similar dysmorphic features (3/6), each harboring a de novo muta

141 (70%), musculoskeletal anomalies (65%), and dysmorphic features (58%).

142 y (10/10), postnatal microcephaly (7/9), and dysmorphic features (9/10).

143 frequency of periodic paralysis was 64% and dysmorphic features 78%.

144 gical and muscular manifestations as well as dysmorphic features accompanied by perturbed proteostasi

145 Patient 3 is a 2-year-old girl with mild dysmorphic features and an interstitial deletion del(4)(

146 autosomal dominant disease characterized by dysmorphic features and cardiac abnormalities, with freq

147 nifestations such as skeletal abnormalities, dysmorphic features and cleft palate.

148 ental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies.

149 es, joint hyperlaxity, and various degree of dysmorphic features and developmental delay as well as i

150 om neonatal lethality to the relatively mild dysmorphic features and developmental delay found in ind

151 ayed speech development, joint contractures, dysmorphic features and dysmotility of the gut.

152 All individuals presented with dysmorphic features and global developmental delay (GDD)

153 yndrome (radiosensitivity, immunodeficiency, dysmorphic features and learning difficulties), whose ce

154 d by congenital cataracts, dental anomalies, dysmorphic features and mental retardation.

155 epsy, short stature, skeletal abnormalities, dysmorphic features and microcephaly in three patients.

156 isability had clinical findings of seizures, dysmorphic features and microcephaly, but not statistica

157 eature; however, 8% of patients did not have dysmorphic features and one-third of patients had only m

158 Since 4q duplications usually manifest dysmorphic features and severe growth and mental retarda

159 cterized by overgrowth, learning disability, dysmorphic features and variable additional features.

160 (CNS) dysfunction, vertebral anomalies, and dysmorphic features and were found to have probably dama

161 ellectual disability, growth deficiency, and dysmorphic features compatible with mild Coffin-Siris sy

162 th ventriculomegaly, developmental delay and dysmorphic features harboured loss-of-function de novo v

163 Characteristic dysmorphic features include small palpebral fissures, a

164 disability, developmental delay, and similar dysmorphic features including telecanthus, epicanthus, a

165 Furthermore, the dysmorphic features of affected family members are consi

166 cy, known or suspected congenital infection, dysmorphic features of the fetus, and documented chromos

167 Dysmorphic features on physical examination may indicate

168 ssociation with developmental abnormalities, dysmorphic features or extra-intestinal tumours.

169 l deficits may occur in the absence of overt dysmorphic features or growth deficits, there is a need

170 : biochemical abnormalities, encephalopathy, dysmorphic features or multiple malformations, neuromusc

171 tic paraplegia, brain white matter loss, and dysmorphic features overlapping with Coffin-Lowry syndro

172 difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebro

173 ntal delay, hypospadias, inguinal hernia and dysmorphic features while, the second patient presented

174 growth and feeding problems, hypotonia, and dysmorphic features, all with heterozygous missense vari

175 ellectual disability, poor to absent speech, dysmorphic features, and a constellation of more variabl

176 and ophthalmic phenotype in combination with dysmorphic features, and almost half of them die before

177 The patients exhibited growth restriction, dysmorphic features, and developmental delays.

178 on c.836C>T is associated with mild MR, mild dysmorphic features, and either unilateral or bilateral

179 failure, short stature, facial and acromelic dysmorphic features, and intellectual disability.

180 he human radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome,

181 congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels suffer f

182 rge syndrome (DGS) or velocardiofacial (VCF) dysmorphic features, and more common in tetralogy of Fal

183 evelopmental delay, intellectual disability, dysmorphic features, and other congenital anomalies in m

184 cterized by congenital cardiopathies, facial dysmorphic features, and short stature.

185 aplegia, ataxia, optic nerve hypoplasia, and dysmorphic features, broadening the previously described

186 in a child with CHI and CH with craniofacial dysmorphic features, choroidal coloboma and endoderm-der

187 insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased hi

188 ed by neonatal hypotonia, childhood obesity, dysmorphic features, hypogonadism, mental retardation, a

189 Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mand

190 loci, and many are associated with striking dysmorphic features, making genotype-phenotype correlati

191 s on chromosome 7q11.23, is characterized by dysmorphic features, mental retardation or learning diff

192 He also had dysmorphic features, mental retardation, and cafe-au-lai

193 opmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellec

194 She presents with milder dysmorphic features, recognized by stereophotogrammetry

195 (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Caroli

196 d intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and de

197 is a developmental disorder with distinctive dysmorphic features, specific neurobehavioral attributes

198 quency of developmental delay, hypotonia and dysmorphic features, which suggests that genetic testing

199 epsy, white matter atrophy, microcephaly and dysmorphic features, who carry damaging de novo heterozy

200 eminal anaesthesia, towering skull shape and dysmorphic features.

201 atients presented with characteristic facial dysmorphic features.

202 tem defects; and other common congenital and dysmorphic features.

203 s in individuals with mental retardation and dysmorphic features.

204 der, and behavioral abnormalities as well as dysmorphic features.

205 neuronal migration defects and craniofacial dysmorphic features.

206 developmental delay, growth retardation, and dysmorphic features.

207 There were no dysmorphic features.

208 periodic paralysis, cardiac arrhythmias, and dysmorphic features.

209 bolism that cause cerebral malformations and dysmorphic features.

210 pre- and postnatal growth failure and other dysmorphic features.

211 pmental delay, epileptic encephalopathy, and dysmorphic features.

212 tor retardation, seizures, growth delay, and dysmorphic features.

213 liver dysfunction, lower extremity edema and dysmorphic features.

214 hort stature and microcephaly, and recurrent dysmorphic features.

215 avioral symptoms, medical comorbidities, and dysmorphic features.

216 p disturbance, high pain tolerance, and mild dysmorphic features.

217 eotypic movements, seizures and non-specific dysmorphic features.

218 ures and one-third of patients had only mild dysmorphic features.

219 volvement, bone dysplasia and characteristic dysmorphic features.

220 ndividuals with neurodevelopmental delay and dysmorphic features.

221 autism-spectrum disorder, macrocephaly, and dysmorphic features.

222 tal delay, muscle weakness and pathology and dysmorphic features.

223 connective tissue findings, and craniofacial dysmorphic features.

224 by episodic weakness, cardiac arrythmias and dysmorphic features.

225 microcephaly, hearing loss, and overlapping dysmorphic features.

226 lopmental delay, intellectual disability and dysmorphic features.

227 bility syndrome associated with seizures and dysmorphic features.

228 ay, hypotonia, speech impairments, and minor dysmorphic features.

229 with developmental delay, macrocephaly, and dysmorphic features.

230 atures of severe intellectual disability and dysmorphic features.

231 sability, a cleft palate, short stature, and dysmorphic features.

232 with seven members affected with ID and mild dysmorphic features.

233 neuploidies in multiple tissues and variable dysmorphic features.

234 X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro)

235 ve GDD/ID, mood or behavioral disorders, and dysmorphic features; 9/11 have structural brain abnormal

236 anomalies, short stature, macrocephaly, and dysmorphic features; half had intellectual disability.

237 ns, and the distal aortic sac became grossly dysmorphic, forming a pair of bilateral, highly dilated

238 erens junctions, reduced rosette number, and dysmorphic glomeruli, whereas beta-catenin stabilization

239 hyperplasia, dermal inflammatory infiltrate, dysmorphic hair follicles, and alopecia in perinatal mic

240 rt and one to the formation of a diminutive, dysmorphic heart.

241 zebrafish embryos lacking hrT function have dysmorphic hearts and an absence of blood circulation.

242 ryonic development causes neurodegeneration, dysmorphic hearts, and reduced motility as a result of i

243 Rescued embryos develop dysmorphic hearts, pericardial edema, few erythrocytes,

244 was immediately accompanied by enlarged and dysmorphic hepatocytes in the absence of significant cel

245 n (a BMP antagonist) mouse mutants exhibited dysmorphic invagination.

246 genetic deletion of RRP17 in mice results in dysmorphic LDCVs, impaired ANP secretion, and hypertensi

247 hypothesized that the origins of the larger, dysmorphic mandible observed in adult Ts1Rhr mice develo

248 is based on typical phenotypic features, the dysmorphic manifestations can be subtle and therefore ov

249 Such OSs consist of dysmorphic membranous structures devoid of lamellae.

250 ether the patients had insight or held their dysmorphic misperception with delusional intensity.

251 evidence of dysregulated mitophagy including dysmorphic mitochondria and mitochondrial cristae, diffe

252 n was associated with retention of enlarged, dysmorphic mitochondria and paralleled by reduced muscle

253 ries, extensive foot process effacement, and dysmorphic mitochondria in podocytes.

254 f diabetic mice, apoptotic tubular cells and dysmorphic mitochondria were observed, Bcl-2 expression

255 ted with altered sperm motility patterns and dysmorphic mitochondrial structure in sperm.

256 were completely innervated, they also showed dysmorphic nerve terminals.

257 ritic changes ensue, leading to increasingly dysmorphic neurites over the next days to weeks.

258 fuscin accumulation was observed in abnormal dysmorphic neurones in 6 cases, but not in seven FCD typ

259 Abnormal dysmorphic neurones on proteomics analysis were comparab

260 Many dysmorphic neurons and giant cells in tubers were staine

261 ntenance.SIGNIFICANCE STATEMENT We show that dysmorphic neurons of human epileptogenic brain lesions

262 hanism may be relevant for human disease, as dysmorphic neurons within human cortical malformations r

263 anical signaling, causing non-sequential and dysmorphic notochord segmentation, leading to altered sp

264 cs, or aggregation, although they do display dysmorphic nuclear shape and cell cycle alterations.

265 study muscle pathology, such as emergence of dysmorphic nuclei in muscular dystrophies caused by muta

266 Fs) frequently accumulated at the concave of dysmorphic nucleus in breast cancer MDA-MB-231 cells.

267 ildren with pathogenic CNVs were noted to be dysmorphic on clinical genetics examination.

268 cal abnormalities of the inner ear, and also dysmorphic or missing kidneys.

269 Dysmorphic orthotopic otic vesicles or immature otic-lik

270 ceptors lacking PRCD display disoriented and dysmorphic OS disc membranes.

271 In Rds/Nrl double-null mice, S-cones form dysmorphic outer segments that lack lamellae and fail to

272 ectron microscopy confirmed the enlarged and dysmorphic phenotype of the lysosomes.

273 The addition of PEDF prevented the dysmorphic photoreceptor changes induced by RPE removal.

274 gressive retinal degenerations in humans and dysmorphic photoreceptors in murine models if defective

275 thin an altered mesenchymal environment in a dysmorphic proboscis.

276 f a zebrafish mutant, spondo, whose spine is dysmorphic, prompted us to reconstruct paleontological e

277 rmal pulmonary vasculature formation and the dysmorphic pulmonary vasculature development associated

278 exchange due to alveolar simplification and dysmorphic pulmonary vasculature.

279 that have abnormal alveolar development and dysmorphic pulmonary vasculature.

280 age with at least a 50% reduction in urinary dysmorphic red cells (57% versus 0%), and 4) the percent

281 Adult Lyn(up/up) mice were anemic, with dysmorphic red cells (spherocyte-like, acanthocytes) in

282 The dysmorphic retina then slowly thinned over decades.

283 ads to sphingolipid imbalance, inflammation, dysmorphic retinal and optic nerve pathology, and severe

284 protein response (UPR) pathway and swollen, dysmorphic rough-ER.

285 es myelination defects resulting in shorter, dysmorphic sheaths.

286 Unexpectedly, the patient was also dysmorphic; showed severe growth failure, microcephaly,

287 ted by the presence of Turner-characteristic dysmorphic skeletal features in patients with SHOX nonse

288 a nonaccelerating enduring, brain structural dysmorphic spectrum following prenatal alcohol exposure

289 rosomal membrane invaginations, and produced dysmorphic sperm with reduced ability to penetrate zona

290 gical analysis of mutant inner ears revealed dysmorphic stereocilia and progressive hair cell degener

291 Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynos

292 of the molecular basis of a number of human dysmorphic syndromes involving abnormalities of craniofa

293 Other associations with metabolic disease, dysmorphic syndromes, and neuromuscular disease are impo

294 -box genes are responsible for developmental dysmorphic syndromes, and several T-box genes have been

295 Apart from dysmorphic syndromes, pathogenic yields were highest for

296 several of the mutations identified in these dysmorphic syndromes.

297 dysplasia and intractable epilepsy, and one dysmorphic term infant with associated hydrocephalus and

298 educed size of the mutant heart is caused by dysmorphic ventricular cardiomyocytes and an increase in

299 e cohort were either nondysmorphic or mildly dysmorphic with dysmorphology scores <=2.

300 Surviving VENs were often dysmorphic, with pathological tau protein accumulation i