ライフサイエンスコーパス: hypoplasia

1 meters, leukocyte depletion, and bone marrow hypoplasia.

2 umans are usually associated with cerebellar hypoplasia.

3 all three patients showed severe cerebellar hypoplasia.

4 phragm innervation and musculature, and lung hypoplasia.

5 n of nephron progenitors and bilateral renal hypoplasia.

6 n individuals with syndromic pontocereballar hypoplasia.

7 poietic progenitor cells, and lymphoid organ hypoplasia.

8 ellectual disability and optic nerve atrophy/hypoplasia.

9 usly unknown co-existence of gluteal muscles hypoplasia.

10 normal cortical lamination and no cerebellar hypoplasia.

11 he cortex and hippocampus without cerebellar hypoplasia.

12 syndrome characterised by selective red cell hypoplasia.

13 Irf6 causes craniosynostosis and mandibular hypoplasia.

14 mutant mice had smaller incisors with enamel hypoplasia.

15 manifests as a rare disease, pontocerebellar hypoplasia.

16 erized by peripheral pancytopenia and marrow hypoplasia.

17 natal lethality associated with severe renal hypoplasia.

18 ding the enamelin protein, results in enamel hypoplasia.

19 ions, hydrocephalus ex vacuo, and cerebellar hypoplasia.

20 cell types ultimately results in cerebellar hypoplasia.

21 ar ataxia, intellectual disability, and iris hypoplasia.

22 stosis with neurological sequelae and facial hypoplasia.

23 tes of the young type 5 (MODY5) and pancreas hypoplasia.

24 ormal ranges are consistent with aneurysm or hypoplasia.

25 h is mutated in patients with cartilage-hair hypoplasia.

26 period that is more likely to produce severe hypoplasia.

27 inating leukodystrophies and pontocerebellar hypoplasia.

28 consistent with prior descriptions of foveal hypoplasia.

29 known to cause lissencephaly with cerebellar hypoplasia.

30 mutants is associated with thymus aplasia or hypoplasia.

31 ormalities, including hypodontia, and enamel hypoplasia.

32 of nephron progenitor cells and severe renal hypoplasia.

33 Four patients (44%) had foveal hypoplasia.

34 ve adjunct to aid in the diagnosis of foveal hypoplasia.

35 ed a fatal GI pathology with dramatic villus hypoplasia.

36 rtailed overall growth, leading to midfacial hypoplasia.

37 racterized by infantile nystagmus and foveal hypoplasia.

38 cell proliferation and resulted in pancreas hypoplasia.

39 and intellectual disability, and cerebellar hypoplasia.

40 including kyphosis, lordosis, scoliosis, and hypoplasia.

41 GNP proliferation, causing severe cerebellar hypoplasia.

42 plex compound inheritance of these pulmonary hypoplasias.

43 sia, and other unspecified primary pulmonary hypoplasias.

44 N hypoplasia and 31 controls (median age: ON hypoplasia, 1 year; controls, 5.5 years).

45 intraocular pressure (22%), and optic nerve hypoplasia (4%).

46 yration (81%), and less commonly, cerebellar hypoplasia (52%).

47 PATIENTS: We studied 13 patients with foveal hypoplasia (7 with ocular albinism [OA], 5 with oculocut

48 ividuals have cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous

49 pediatric neuroradiologists for optic nerve hypoplasia, absent or ectopic posterior pituitary, absen

50 in mice leads to ectodermal malformation and hypoplasia, accompanied by a reduced proliferative capac

51 duration, as well as atrioventricular bundle hypoplasia after birth in heterozygous mice.

52 in RPE develop pigmentary changes, syncytia, hypoplasia, age-dependent centrifugal and non-apoptotic

53 anglia, dentato-olivary dysplasia and severe hypoplasia/agenesis of the pyramidal tracts.

54 d all been diagnosed with PMG and cerebellar hypoplasia allowed us to identify regions of the genome

55 .2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region.

56 tions in the PORCN gene lead to focal dermal hypoplasia, an X-linked developmental disorder.

57 made in 26 cases of clinically confirmed ON hypoplasia and 31 controls (median age: ON hypoplasia, 1

58 null mouse embryos display severe OFT and RV hypoplasia and a single ventricle phenotype due to decre

59 MCT8 knockdown resulted in cellular hypoplasia and a thinner optic tectum.

60 scription factor Six3 results in optic nerve hypoplasia and a wide repertoire of RGC axon pathfinding

61 studies of DRS have reported abducens nerve hypoplasia and aberrant innervation of the lateral rectu

62 y, brain malformations including hippocampus hypoplasia and agenesis of corpus callosum, as well as n

63 Hypoplasia and agenesis of the liver lobe is a rare abno

64 t malformations, diaphragmatic hernia, renal hypoplasia and ambiguous genitalia.

65 lar malformation characterized by cerebellar hypoplasia and an enlarged posterior fossa and fourth ve

66 a4-mutant embryos died from subsequent liver hypoplasia and anemia.

67 al disorder characterized by pontocerebellar hypoplasia and apnoea, we discovered a missense mutation

68 Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneou

69 rome, a ciliopathy causing cerebellar vermis hypoplasia and ataxia.

70 One patient with a history of cerebellar hypoplasia and bilateral congenital corneal anesthesia u

71 aging may be a distinctive feature of foveal hypoplasia and can support this diagnosis, especially in

72 or GDx VCC can occur in patients with foveal hypoplasia and can therefore aid in the diagnosis, espec

73 d to hypoxia as well as subsequent diaphragm hypoplasia and CDH.

74 s newly discovered prenatal therapy for lung hypoplasia and CDH.

75 ndrial fission and fusion in pontocerebellar hypoplasia and central neurodevelopment in addition to o

76 in TWIST1 cause craniosynostosis, mandibular hypoplasia and cleft palate.

77 rior to the optic canal) in patients with ON hypoplasia and controls aged 0-17 years from an academic

78 associated with posterior cerebellar vermis hypoplasia and Dandy-Walker malformation.

79 uding fully penetrant cleft palate, mandible hypoplasia and deficits in cranial base ossification.

80 eceptors in mice causes a more severe thymic hypoplasia and delayed T cell recovery when miR-205 is c

81 ate that loss of Wnt5a results in cerebellar hypoplasia and depletion of GABAergic and glutamatergic

82 Patients had evidence of foveal hypoplasia and disruption of the cone photoreceptor laye

83 sing a Shox2-Cre allele led to a similar DMP hypoplasia and down-regulation of Hcn4, whereas activati

84 (32/80; 40%), and mild to severe cerebellar hypoplasia and dysplasia (63/80; 78.7%).

85 tarded growth and development, genitourinary hypoplasia and ear abnormalities.

86 Hand2 expression, causing right ventricular hypoplasia and embryonic lethality in mice.

87 of Hand2 in mice results in right ventricle hypoplasia and embryonic lethality.

88 of hypopituitarism, with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, has been r

89 smorphology including dose-dependent midface hypoplasia and hypotelorism, with a lowest observable ef

90 cessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facia

91 m, cerebellar vermis hypoplasia, optic nerve hypoplasia and mild ventriculomegaly.

92 , and MDS/AML usually manifested with marrow hypoplasia and monosomy 7, but the somatic mutation land

93 ne (RFX6) and is characterised by pancreatic hypoplasia and neonatal diabetes.

94 KI enamel also exhibited hypoplasia and numerous surface defects, whereas heteroz

95 mine transporter gene associated with foveal hypoplasia and optic nerve misrouting without pigmentati

96 ll and disorganized, causing skeletal muscle hypoplasia and perinatal lethality.

97 In its most severe form, there is severe RV hypoplasia and poorly developed OFT resulting in early e

98 rib anomalies, thoracic dysplasia, pulmonary hypoplasia and protruding abdomen.

99 nal deletion of Tshz1 in mice resulted in OB hypoplasia and severe olfactory deficits.

100 ncer from the genome of mice resulted in SAN hypoplasia and sinus arrhythmias.

101 Two patients-one with cerebellar hypoplasia and the other with posterior fossa tumor rese

102 tle abnormalities, including corpus callosum hypoplasia and ventriculomegaly.

103 Brain MRI revealed cerebellar hypoplasia and ventriculomegaly.

104 ous Zic1 gene in the mouse causes cerebellar hypoplasia and vertebral defects.

105 The patient was born with bilateral renal hypoplasia and was diagnosed with type 1 diabetes mellit

106 using our 6-point grading system for foveal hypoplasia and were segmented for quantitative analysis:

107 ntia, tooth root deficiencies, alveolar bone hypoplasia, and a range of skeletal malformations.

108 l cerebrovascular variants; vertebral artery hypoplasia, and an incomplete posterior circle of Willis

109 nesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephali

110 ement, gingivitis, poor oral hygiene, dental hypoplasia, and caries.

111 ng in apoptosis of the Misr2+ cells, uterine hypoplasia, and complete infertility in the adult female

112 erized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and for whic

113 erized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features.

114 cation of cerebral gyration, corpus callosum hypoplasia, and dysmorphic facial features, we identifie

115 isorders, behavior problems, corpus callosum hypoplasia, and epilepsy.

116 is of the corpus callosum, cerebellar vermis hypoplasia, and facial dysmorphism.

117 tal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism.

118 smorphic facial features, especially midface hypoplasia, and intellectual disability with severe expr

119 ties, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had le

120 area, congenital glaucoma and optical nerve hypoplasia, and optic disc abnormalities.

121 ppearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.

122 rdation, polyhydramnios, cardiac ventricular hypoplasia, and vascular abnormalities in the lung, plac

123 Thymic hypoplasia/aplasia occurs as a part of DiGeorge syndrome

124 Structural lung defects in the form of lung hypoplasia are almost invariably seen in patients with C

125 esis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood.

126 leptic encephalopathies, and highlight teeth hypoplasia as a possible indicator for SLC13A5 screening

127 individuals showed brainstem and cerebellum hypoplasia, as well as ventriculomegaly.

128 our Par1a/b alleles resulted in severe renal hypoplasia, associated with impaired ureteric bud branch

129 Analysis of focal dermal hypoplasia-associated mutations in Porcn revealed that l

130 hortening of the limbs, round head, mid-face hypoplasia at birth, and kyphosis progression during pos

131 reduction of nephron number as well as renal hypoplasia at birth.

132 taken into consideration when evaluating ON hypoplasia, based on MRI criteria.

133 coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalm

134 D-driven TGF-beta signaling and rescues lung hypoplasia both in vitro and in vivo.

135 EM87B depletion likewise resulted in cardiac hypoplasia but with preserved branchial arch development

136 atment of transverse discrepancy or maxillae hypoplasia, but the biological mechanism of bone formati

137 a syndrome affecting 2 siblings with aortic hypoplasia, calcific atherosclerosis, systolic hypertens

138 Optic nerve atrophy and hypoplasia can be primary disorders or can result from t

139 ome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates.

140 1 compound heterozygous mutations had thymic hypoplasia, causing a T-B+NK+ SCID phenotype, whereas th

141 ndy-Walker malformation (DWM) and cerebellar hypoplasia (CBLH).

142 which members affected with corpus callosum hypoplasia (CCH) lacked syndromic features and had consa

143 Additionally, cerebellar aplasia or hypoplasia characteristic of Joubert syndrome was presen

144 ock in Mullerian duct elongation and uterine hypoplasia characterized by loss of the entire endometri

145 f the RNase MRP complex cause cartilage-hair hypoplasia (CHH), a human developmental condition charac

146 Its mutations cause cartilage-hair hypoplasia (CHH), an autosomal recessive skeletal dyspla

147 pic human diseases, including cartilage hair hypoplasia (CHH).

148 autosomal recessive condition cartilage-hair hypoplasia (CHH).

149 rvival in isolated CDH with severe pulmonary hypoplasia compared with the standard perinatal manageme

150 n of the cortex, hypomyelination, cerebellar hypoplasia, congenital arthrogryposis, and early fetal/p

151 rome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia

152 ide of the lower incisors, as well as enamel hypoplasia-consistent with the human ARS phenotype.

153 h hemifacial microsomia also showed that jaw hypoplasia correlates with mandibular artery dysgenesis.

154 AX-1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region on chromosome X), and importa

155 on in dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1 and

156 , and dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1 mess

157 7A1, dosage-sensitive, sex-reversal, adrenal hypoplasia-critical region on chromosome X protein , NOT

158 Among them, renal agenesis or hypoplasia, decreased innervation of the gut, and ptosis

159 ue of fibulin-7 (FBLN7), resulted in cardiac hypoplasia, deficient craniofacial cartilage deposition

160 cessive disorder manifested by severe enamel hypoplasia, delayed and failed tooth eruption, misshapen

161 in particular callosal agenesis and pontine hypoplasia, delayed myelination and, less frequently, th

162 (ONL) thickness was measured and presence of hypoplasia determined.

163 lts in reduced GCp proliferation, cerebellar hypoplasia, developmental delay, and motor deficits in m

164 th CHARGE syndrome, which include cerebellar hypoplasia, developmental delay, coordination problems,

165 IP(6)-mediated chelation on Pontocerebellar Hypoplasia disease pathology and thereby highlight the c

166 heal occlusion (FETO) to reverse severe lung hypoplasia due to CDH.

167 malies of seminal vesicles include agenesis, hypoplasia, duplication, fusion, and cyst.

168 ocular manifestations include bilateral iris hypoplasia, ectopia lentis, corectopia, ectropion uveae,

169 Dp16 mice demonstrated craniofacial hypoplasia, especially in the ventral part of the skull

170 isplays BPES-like conditions such as midface hypoplasia, eyelid abnormalities and female subfertility

171 g (AFR) within treated areas of focal dermal hypoplasia (FDH).

172 n humans, PORCN mutations cause focal dermal hypoplasia (FDH, or Goltz syndrome), an X-linked dominan

173 segmented to analyze the severity of foveal hypoplasia (FH) and to measure retinal layer thicknesses

174 inuous ECs during embryogenesis caused liver hypoplasia, fibrosis, and impaired colonization by hemat

175 tual disability, corpus callosum agenesis or hypoplasia, flexion contractures, brachydactyly of hands

176 iameter of the largest outer ring and foveal hypoplasia grades (P < 0.0001).

177 cones/mm(2) with overlap between the foveal hypoplasia grades.

178 cuity, associated with bilateral optic nerve hypoplasia, had a BRAF mutation.

179 y the core triad of p73 deficiency: cortical hypoplasia, hippocampal malformations, and ventriculomeg

180 phron progenitors results in perinatal renal hypoplasia; however, postnatal Six2creFrs2alphaKO kidney

181 These include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalit

182 uption of Zbtb20 leads to anterior pituitary hypoplasia, hypopituitary dwarfism and a complete loss o

183 vere variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth re

184 eye, cataract in 9 eyes (13.6%), and foveal hypoplasia in 4 eyes.

185 ctural OCT scans were consistent with foveal hypoplasia in all patients.

186 Vascular complications of portal hypoplasia in biliary atresia (BA) and acute rejection (

187 We show that late lung hypoplasia in CDH is associated with (compensatory) upre

188 to GCp proliferative defects and cerebellar hypoplasia in GCp-specific Chd7 mouse mutants.

189 with T-cell lymphopenia and probable thymic hypoplasia in human subjects, and haploinsufficiency for

190 have been associated with severe cerebellar hypoplasia in humans.

191 tomography images revealed a severe midface hypoplasia in Mgp(-/-) mice.

192 anule neuron progenitors leads to cerebellar hypoplasia in mice, due to the impairment of granule neu

193 ge, p53 activation, apoptosis and cerebellar hypoplasia in mice.

194 elopmental delay, associated with cerebellar hypoplasia in one case.

195 clin D partner CDK4 (Cdk4(-/-) mice) exhibit hypoplasia in the pituitary and pancreatic islet due to

196 Recently, cerebellar hypoplasia in Ts65Dn mice was rescued by a single treatm

197 ot neural crest, cell fate results in pineal hypoplasia in zebrafish, while mis-expression of transcr

198 c epithelium (OgtKO(Panc)) causes pancreatic hypoplasia, in part by increased apoptosis and reduced l

199 acycline include tooth discoloration; enamel hypoplasia; inhibition of bone growth following use in l

200 OCT angiograms suggest that foveal hypoplasia is a phenocopy of grade 1 NCMD, torpedo macul

201 Iris hypoplasia is likely to result from either complete loss

202 clinicians in objectively determining if ON hypoplasia is present.

203 Thoracic hypoplasia is the most striking abnormality of this diso

204 spectrum of abnormalities of which thoracic hypoplasia is the most striking.

205 erebral volume, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus, and fetal

206 ns causing lethal congenital pontocerebellar hypoplasia markedly destabilize the protein.

207 eletion of Tbx3 in ECs results in glomerular hypoplasia, microaneurysms and regressed fenestrations l

208 ID, agenesis of corpus callosum, cerebellar hypoplasia, microcephaly and ichthyosis, revealed a cand

209 alformations including macrocephaly, midface hypoplasia, micrognathia, frontal bossing, and down-slan

210 case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was

211 finding defects (corpus callosum agenesis or hypoplasia, mirror movements, Duane anomaly), and ocular

212 lar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10).

213 ure; two sisters showed antenatal cerebellar hypoplasia, neonatal respiratory-distress syndrome, and

214 DTBM revealed marked hypoplasia of cerebellar afferent systems in DS, includi

215 ure of fontanelle, bifid xiphoid process and hypoplasia of clavicle and zygomatic arch.

216 l magnetic resonance imaging revealed marked hypoplasia of extraocular muscles and intraorbital crani

217 mple type of Poland syndrome with incidental hypoplasia of ipsilateral gluteal muscles.

218 ndition, the molecular mechanisms leading to hypoplasia of left heart structures are unknown.

219 elements, irregular articular surfaces, and hypoplasia of ligaments.

220 These included malformation of ears, hypoplasia of mammillae, and dorsal acral hypertrichosis

221 e showed reduced muscle mass, hypotrophy and hypoplasia of muscle fibres, as well as an increase in o

222 Hypoplasia of myocardium was caused by decreased cardiom

223 lted in abnormal heart development including hypoplasia of myocardium, ventricular septal defect, and

224 nce of exocrine pancreatic insufficiency and hypoplasia of nasal alae.

225 orders with prenatal onset, characterized by hypoplasia of pons and cerebellum.

226 nia and feeding difficulties, in part due to hypoplasia of the branchiomeric muscles.

227 onnective tissues, tendons, and bones led to hypoplasia of the cartilage and its attachment to tendon

228 rogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum were consistent among

229 The brains of Ube3b (-/-) mice had hypoplasia of the corpus callosum, enlarged ventricles,

230 orf46 haploinsufficiency was associated with hypoplasia of the corpus callosum.

231 cortical regional and laminar organization: hypoplasia of the frontal cortex, ventral expansion of t

232 ed striking developmental defects, including hypoplasia of the mandible and asymmetric fusion of ribs

233 Hypoplasia of the right liver should not be confused wit

234 resonance imaging features of a rare case of hypoplasia of the right lobe of the liver in a sigmoid c

235 The syndrome is commonly associated with hypoplasia of the right lung and right pulmonary artery.

236 s of the first cervical vertebra, unilateral hypoplasia of the second cervical vertebra, clefting of

237 These defects resulted in hypoplasia of the sympathetic ganglion chain and decreas

238 hypopituitarism in children with optic nerve hypoplasia (ONH) because they are at risk for developmen

239 Foveal hypoplasia, optic nerve decussation defects and anterior

240 al), thin corpus callosum, cerebellar vermis hypoplasia, optic nerve hypoplasia and mild ventriculome

241 ant mice (Pbx1-/-) develop malformations and hypoplasia or aplasia of multiple organs, including the

242 lectual disability (ID), hypertrichosis, and hypoplasia or aplasia of nails and terminal phalanges.

243 ed by intellectual disability, epilepsy, and hypoplasia or aplasia of the nails of the thumb and grea

244 other brain disorders involving white matter hypoplasia or atrophy.

245 iffusion tractography), assuming that marked hypoplasia or Wallerian degeneration on the lesioned sid

246 numerary or missing teeth, enamel and dentin hypoplasia, or teeth crowding.

247 palmoplantar keratoderma, hypodontia, enamel hypoplasia, oral hyperpigmentation, and dysphagia.

248 ; besides cerebral hyperplasia and pulmonary hypoplasia, pale livers, hypoplastic spleen, thymus, and

249 e posterior amelia with pelvis and pulmonary hypoplasia (PAPPA).

250 ponding to a gene mutation in cartilage-hair hypoplasia patients, altered lncRNA chromatin occupancy,

251 Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare recess

252 Pontocerebellar hypoplasia (PCH) represents a group of recessive develop

253 rst three are known to cause pontocerebellar hypoplasia (PCH) types 2A-C, 4, and 5.

254 brain and significant cerebral white matter hypoplasia, periventricular white matter gliosis, and ax

255 Pulmonary hypoplasia (PH) and pulmonary hypertension determine mor

256 ity of individuals lack the fifth digit/nail hypoplasia phenotype, a hallmark of most SSRIDDs.

257 hanistic insights into ciliopathy cerebellar hypoplasia phenotypes.

258 In BA patients with PV hypoplasia, portoplasty seems to constitute the best tec

259 Grade of foveal hypoplasia, quantitative parameters (photoreceptor lengt

260 matitis herpetiformis, anemia, dental enamel hypoplasia, recurrent oral aphthae, short stature, osteo

261 for autism-like behaviours and the brainstem hypoplasia seen in some individuals with mutations of LA

262 normal at birth, exhibit skin defects, lung hypoplasia, severe runting, poor body condition, and ear

263 utations) which exhibit a spectrum of foveal hypoplasia, SLC38A8 mutations have arrest of retinal dev

264 hese defects included enteric nervous system hypoplasia, slow GI transit, diminished peristaltic refl

265 Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) is an infantile SMA variant with ad

266 nits EXOSC8 and EXOSC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central ne

267 h posterior amelia with pelvis and pulmonary hypoplasia syndrome (PAPPAS) in one available homozygous

268 coarse facial features, and fifth digit/nail hypoplasia that are caused by pathogenic variants in gen

269 ; Twist1 (+/-) ) can have severe mandibular hypoplasia that leads to agnathia and cleft palate at bi

270 tion of brain tissue and a marked cerebellar hypoplasia that we characterize as kernicterus.

271 ature death, and severe lymphoid and myeloid hypoplasia together with diminished T cell-independent (

272 hiatric disorders as well as Pontocerebellar Hypoplasia type 3 (PCH3).

273 otypes seen in patients with Pontocerebellar Hypoplasia Type 3 are also exhibited by these Piccolo de

274 order.SIGNIFICANCE STATEMENT Pontocerebellar Hypoplasia Type 3 is a devastating developmental disorde

275 ly been linked to a disease, Pontocerebellar Hypoplasia type 3, which causes brain atrophy.

276 mutated in the human disease Pontocerebella Hypoplasia Type 7 (PCH7) and implicated in snRNA and hTR

277 Pontocerebellar hypoplasia type 7 (PCH7) is a unique recessive syndrome

278 onal variability within each grade of foveal hypoplasia, underlines the importance of advancing knowl

279 failure syndrome characterized by erythroid hypoplasia, usually without perturbation of other hemato

280 Whenever OCT was performed, foveal hypoplasia was indicated by the lack of foveal dip.

281 Prominent gray matter hypoplasia was observed in medial frontal regions, the i

282 Optic nerve hypoplasia was recorded in 3 children and in 4 young adu

283 er in the central retinal area (i.e., foveal hypoplasia) was found in more than 80% of patients with

284 resence of coarctation shelf and aortic arch hypoplasia were more common in fetuses with CoA than in

285 he RNFL and GCL, signs reminiscent of foveal hypoplasia were observed in patients with ONH.

286 dequate CGNP proliferation causes cerebellar hypoplasia whereas excessive CGNP proliferation can caus

287 milies with fatal congenital pontocerebellar hypoplasia, whereas a case with genomic rearrangements a

288 /+); R26R(DTA/+) mice led to severe cementum hypoplasia, whereas constitutive activation of beta-cate

289 showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aorti

290 1.2 deletion syndrome patients have a thymic hypoplasia, which results in a peripheral T cell lymphop

291 by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal st

292 severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and op

293 nted congenital ataxia and cerebellar vermis hypoplasia with elongated superior cerebellar peduncles

294 amily with three children affected by foveal hypoplasia with infantile nystagmus, following an autoso

295 nerative condition involving pontocerebellar hypoplasia with microcephaly (PCHM).

296 to UTX, KMT2D NCC knockout mice demonstrate hypoplasia with reductions in frontonasal bone lengths.

297 Optic nerve findings included hypoplasia with the double-ring sign, pallor, and increa

298 d to have a distinct type of Pontocerebellar Hypoplasia with typical basal ganglia involvement on neu

299 was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being report

300 iciency (CVID) suggests germinal center (GC) hypoplasia, yet a subset of patients with CVID is parado