ライフサイエンスコーパス: hypoplasia

1 phragm innervation and musculature, and lung hypoplasia.

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

3 n of nephron progenitors and bilateral renal hypoplasia.

4 ormal ranges are consistent with aneurysm or hypoplasia.

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

6 inating leukodystrophies and pontocerebellar hypoplasia.

7 consistent with prior descriptions of foveal hypoplasia.

8 known to cause lissencephaly with cerebellar hypoplasia.

9 mutants is associated with thymus aplasia or hypoplasia.

10 ormalities, including hypodontia, and enamel hypoplasia.

11 of nephron progenitor cells and severe renal hypoplasia.

12 Four patients (44%) had foveal hypoplasia.

13 n individuals with syndromic pontocereballar hypoplasia.

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

15 poietic progenitor cells, and lymphoid organ hypoplasia.

16 rneal clouding, anterior synechiae, and iris hypoplasia.

17 itored for ECC due to the presence of enamel hypoplasia.

18 e unbalance entails a spectrum of left heart hypoplasia.

19 t, as commonly suggested, arise from midface hypoplasia.

20 e with the extent of superior oblique muscle hypoplasia.

21 rocephaly, cleft secondary palate and dental hypoplasia.

22 nesis, abnormal basal ganglia and cerebellar hypoplasia.

23 tive in nitrofen-induced CDH-associated lung hypoplasia.

24 le degrees of lung and pulmonary vasculature hypoplasia.

25 y is associated with subclinical optic nerve hypoplasia.

26 usly unknown co-existence of gluteal muscles hypoplasia.

27 meters, leukocyte depletion, and bone marrow hypoplasia.

28 normal cortical lamination and no cerebellar hypoplasia.

29 he cortex and hippocampus without cerebellar hypoplasia.

30 syndrome characterised by selective red cell hypoplasia.

31 umans are usually associated with cerebellar hypoplasia.

32 Irf6 causes craniosynostosis and mandibular hypoplasia.

33 mutant mice had smaller incisors with enamel hypoplasia.

34 manifests as a rare disease, pontocerebellar hypoplasia.

35 erized by peripheral pancytopenia and marrow hypoplasia.

36 natal lethality associated with severe renal hypoplasia.

37 ding the enamelin protein, results in enamel hypoplasia.

38 ions, hydrocephalus ex vacuo, and cerebellar hypoplasia.

39 cell types ultimately results in cerebellar hypoplasia.

40 ar ataxia, intellectual disability, and iris hypoplasia.

41 all three patients showed severe cerebellar hypoplasia.

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

43 In patients with optic nerve hypoplasia, 12 of 16 eyes (75%) had severe peripheral no

44 albinism, PAX6 mutations, or isolated foveal hypoplasia); (2) atypical foveal hypoplasia (predicting

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

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

53 ristics), we found increased risk for enamel hypoplasia among the VLBW infants compared with the NBW

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

55 Six of 9 patients (67%) with optic nerve hypoplasia and 1 of 6 patients (17%) with other anomalie

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

57 Sixteen eyes of 9 patients with optic nerve hypoplasia and 8 eyes of 6 patients with other congenita

58 y1 and Spry2, display parathyroid and thymus hypoplasia and a failure of these organ primordia to com

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 rmation characterized by left ventricle (LV) hypoplasia and abnormal LV perfusion and oxygenation.

63 bit key features of SOD, including pituitary hypoplasia and absence of the optic disc.

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

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

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

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

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

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

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

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

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

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

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

77 nactivation caused marked, lethal myocardial hypoplasia and decreased cardiomyocyte proliferation, wh

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

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

80 58 (Znf238, Zfp238) causes severe cerebellar hypoplasia and developmental failure of Purkinje neurons

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

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

83 d occasionally other defects including renal hypoplasia and duplex systems.

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 utaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males.

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

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 Foveal hypoplasia and optic nerve misrouting are developmental

93 characterized by immune-mediated bone marrow hypoplasia and pancytopenia, can be treated effectively

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

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

96 th due to respiratory failure caused by lung hypoplasia and pulmonary hemorrhage.

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

98 c mice had intermediate levels of pancreatic hypoplasia and significant but incomplete rescue of impa

99 ro cell recombinant model to mimic pulmonary hypoplasia and specifically to investigate epithelial-me

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

101 s a congenital disorder with erythroid (Ery) hypoplasia and tissue morphogenic abnormalities.

102 tle abnormalities, including corpus callosum hypoplasia and ventriculomegaly.

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

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

105 use reduced cerebellar size (pontocerebellar hypoplasia) and reduced cerebral cortical size (microcep

106 pathognomonic for JBTS (including cerebellar hypoplasia), and retention of abnormal bulbous cilia ass

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

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

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

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

111 dation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafne

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

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

114 is associated with microcephaly, cerebellar hypoplasia, and growth retardation.

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

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

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

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

119 stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been r

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

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

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

123 f1ba zebrafish mutant that exhibits pancreas hypoplasia, as observed in HNF1B monogenic diabetes, we

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

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

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

127 on of severe early childhood caries (S-ECC): hypoplasia-associated severe early childhood caries (HAS

128 frican Americans had a lower risk for enamel hypoplasia at 18-20 mos.

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

130 ventricular septal defects (n=22), tricuspid hypoplasia/atresia (n=13), and coronary artery fistulas

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

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

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

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

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

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

137 Twenty-three patients had typical foveal hypoplasia (category 1).

138 ckfan anemia (DBA) is a congenital erythroid hypoplasia caused by a functional haploinsufficiency of

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

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

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

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

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

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

145 restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an underg

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

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

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

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

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

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

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

153 al progenitors resulted in severe cerebellar hypoplasia, decreased proliferation of cerebellar granul

154 ation in the Myocd gene exhibited myocardial hypoplasia, defective atrial and ventricular chamber mat

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

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

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

158 Dental assessments for ECC and DDE (enamel hypoplasia, demarcated and diffuse opacities) were compl

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

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

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

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

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

164 al defects are mainly permutations of enamel hypoplasia (EHP).

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

166 ns in PORCN are associated with focal dermal hypoplasia (FDH), whereas gene deletion causes embryonic

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

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

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

170 eropathogenic infection are epistatic to the hypoplasia generated in Pvf/Pvr mutants, making the Pvr

171 Patients with Alagille syndrome have midface hypoplasia giving them a characteristic 'inverted V' fac

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

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

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

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

176 rt malformations, namely, compact myocardial hypoplasia, hypertrabeculation, and ventricular septal d

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

178 evelopmental delay, microcephaly, cerebellar hypoplasia, immunodeficiency, and extremely short telome

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

180 n, abnormalities of gyration in 2, brainstem hypoplasia in 2, isolated fourth ventricle in 1, abnorma

181 ditional anomalies were as follows: callosal hypoplasia in 3 children, abnormalities of gyration in 2

182 Finally, we report cerebellar vermis hypoplasia in 35% of CHARGE syndrome patients with a pro

183 reduced FGF signalling to cerebellar vermis hypoplasia in a human syndrome.

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

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

186 have been associated with severe cerebellar hypoplasia in humans.

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

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

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

190 All 12 deaths were caused by pulmonary hypoplasia in the early neonatal period.

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

192 The etiology of midfacial hypoplasia in the Wnt1-cre; Jag1 Flox/Flox mice was a co

193 provide evidence to suggest that parathyroid hypoplasia in these mutants is due to early gene express

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

195 pogonadism and anosmia), stereotyped midface hypoplasia, intellectual disabilities and, in some cases

196 The associated pulmonary hypoplasia is a major determinant of outcome.

197 a rare disorder in which patellar aplasia or hypoplasia is associated with external genital anomalies

198 n defects in the third pouch, whereas thymus hypoplasia is caused by reduced proliferation of thymic

199 Iris hypoplasia is likely to result from either complete loss

200 clinicians in objectively determining if ON hypoplasia is present.

201 Thoracic hypoplasia is the most striking abnormality of this diso

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

203 LV hypoplasia is typically seen in association with left ve

204 ed comprehension of the pathogenesis of lung hypoplasia is warranted.

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

206 ents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or car

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

208 Less severe "borderline" ventricular hypoplasia may instead allow various biventricular thera

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

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

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

212 atal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizu

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

214 ristic pulmonary interstitial thickening and hypoplasia observed in both nitrofen-induced hypoplastic

215 27(Kip1) accumulation is responsible for the hypoplasia observed in normal tissues of Skp2(-/-) mice

216 aling defects could contribute to the vermis hypoplasia observed in the human syndromes.

217 h1 F/F mice did not recapitulate the midface hypoplasia of Alagille syndrome.

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

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

220 ial aspect of the left, as well as bilateral hypoplasia of frontal and parietal white matter.

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

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

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

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

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

226 Hypoplasia of myocardium was caused by decreased cardiom

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

228 led to ecotopic and misguided branching and hypoplasia of oculomotor axons; embryos had defective ey

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

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

231 Finally, we observed hypoplasia of the corpus callosum in both mouse mutants

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

233 ently in agenesis of the perineum and severe hypoplasia of the genital tubercle.

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

235 simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm.

236 include the loss of the palatal skeleton and hypoplasia of the pharyngeal skeleton.

237 Hypoplasia of the right liver should not be confused wit

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

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

240 CT and CT angiography - hypoplasia of the right lung with no visible interlobar

241 ssion of Nkx2.5 in the heart leads to severe hypoplasia of the SAN and the venous valves, dis-regulat

242 h as asymmetry of the lateral ventricles and hypoplasia of the septum, reminiscent of cavum septum pe

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

244 Optic nerve hypoplasia (ONH) is an increasingly recognized cause of

245 ll as bilateral optic nerve aplasia (ONA) or hypoplasia (ONH), for mutations in ATOH7.

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

247 utations in Pax2, is characterized by kidney hypoplasia, optic nerve malformation, and hearing loss.

248 tional cerebral anomalies including callosal hypoplasia or agenesis, abnormal basal ganglia and cereb

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

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

251 ibrosis syndrome) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical struc

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

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

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

255 T for classifying typical or atypical foveal hypoplasia, other abnormal foveal morphology, and normal

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

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

258 ic brain imaging features of pontocerebellar hypoplasia (PCH) due to loss of brainstem and cerebellar

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

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

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

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

263 severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia

264 ; Jag1 Flox/Flox recapitulated the midfacial hypoplasia phenotype of Alagille syndrome.

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

266 indicators were observed for renal agenesis/hypoplasia (positive) and anophthalmia/microphthalmia an

267 ated foveal hypoplasia); (2) atypical foveal hypoplasia (predicting achromatopsia); (3) other foveal

268 d into 1 of 4 categories: (1) typical foveal hypoplasia (predicting clinical diagnosis of albinism, P

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

270 the nonperfusion associated with optic nerve hypoplasia seemed to be more severe and associated more

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

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

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

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

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

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

277 fects of the cerebellar vermis, ranging from hypoplasia to aplasia.

278 ental delay, consistent with pontocerebellar hypoplasia type 1 (PCH1; MIM 607596).

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

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

281 nia, heart defects overall, pulmonary-artery hypoplasia, ventricular septal defects, and hypoplastic

282 Cardiac hypoplasia was caused by decreased cardiomyocyte prolife

283 Optic nerve hypoplasia was diagnosed in 19 pediatric patients during

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

285 The incidence of hypoplasia was significantly higher in VLBW compared wit

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

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

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

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

290 rminal differentiation, cell-cycle exit, and hypoplasia, whereas ectopic expression of ACTL6a promote

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

292 e, developed stunted lacrimal gland and lens hypoplasia which was significantly more severe than that

293 1.2 deletion syndrome patients have a thymic hypoplasia, which results in a peripheral T cell lymphop

294 tate the left heart (LH) in patients with LH hypoplasia who have undergone single-ventricle palliatio

295 These mutants displayed significant renal hypoplasia with a marked reduction in nephrons.

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

297 ditional embryos led to severe anterior lobe hypoplasia with drastically reduced expression of the pi

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

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

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