ライフサイエンスコーパス: microphthalmia

1 ing in severe orofacial clefting and extreme microphthalmia.

2 e RPE results in RPE apoptosis, aniridia and microphthalmia.

3 fying the various causes of anophthalmia and microphthalmia.

4 f axial length in individuals with posterior microphthalmia.

5 ions in these genes play in anophthalmia and microphthalmia.

6 urn lead to congenital ocular colobomata and microphthalmia.

7 cycle exit is compromised, which results in microphthalmia.

8 tion, leading ultimately to a small lens and microphthalmia.

9 dorsally expressed gene implicated in human microphthalmia.

10 single Fgfr1 allele developed cataracts and microphthalmia.

11 cause severe head and eye defects, including microphthalmia.

12 epithelium of the eye, causing the observed microphthalmia.

13 n eye development and showed anophthalmia or microphthalmia.

14 yo demonstrates defective lens formation and microphthalmia.

15 Gas1 mutant mice have microphthalmia.

16 in lens fiber development along with severe microphthalmia.

17 in the homozygous state causes cataract and microphthalmia.

18 d vessels, defective retinal vasculature and microphthalmia.

19 with unilateral or bilateral anophthalmia or microphthalmia.

20 anencephaly with absence of the head (6.6%), microphthalmia (4.9%), and micrognathia (1.6%).

21 with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the i

22 Microphthalmia, a bHLH-zip transcription factor associat

23 demonstrated by lack of detectable levels of microphthalmia, a transcription factor that is a marker

24 pmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD)

25 ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous disorders with fr

26 on of which causes ocular defects, including microphthalmia and anophthalmia.

27 The unique features, including unilateral microphthalmia and anterior segment dysgenesis, were unl

28 he RPE rescues the RPE morphology, aniridia, microphthalmia and anterior vasoproliferation, but does

29 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma.

30 in that mice were smaller and they developed microphthalmia and cardiac disease.

31 pmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.

32 the targeted deletion of Sox1 in mice causes microphthalmia and cataract.

33 ardiac and ophthalmologic anomalies, such as microphthalmia and cataract.

34 rior and posterior segment disorders such as microphthalmia and coloboma.

35 ental eye disorders, including anophthalmia, microphthalmia and coloboma.

36 nesis/hypoplasia (positive) and anophthalmia/microphthalmia and gastroschisis (negative).

37 Cx50-null mice exhibited microphthalmia and nuclear cataracts.

38 iously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo mis

39 t:Mash1 transgenic founders exhibit variable microphthalmia and patchy coat color hypopigmentation.

40 ural tube, and null Mitf mutations result in microphthalmia and pigmentation defects.

41 re homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment.

42 defects in retinoblast proliferation lead to microphthalmia and to an absence of nearly all different

43 We identified five individuals with microphthalmia and/or coloboma from four independent fam

44 Coloboma is often associated with microphthalmia and/or contralateral anophthalmia.

45 toreceptor defects, oculocutaneous albinism, microphthalmia, and colobomas.

46 unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibro

47 g cystic kidney, craniofacial malformations, microphthalmia, and preaxial polydactyly of the right hi

48 e absence of choriocapillaris, occurrence of microphthalmia, and the loss of visual function.

49 cy of either SOX2 or PAX6 is associated with microphthalmia, anophthalmia or aniridia.

50 disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inh

51 Included in the study were 141 patients with microphthalmia, anophthalmia, and coloboma disease witho

52 Microphthalmia, anophthalmia, and coloboma form an inter

53 omalies including glaucoma (ASDA; 59 genes), microphthalmia-anophthalmia-coloboma (MAC; 86 genes), co

54 Three microphthalmia/anophthalmia loci have been identified, a

55 Isolated human microphthalmia/anophthalmia, a cause of congenital blind

56 inant, male-lethal syndrome characterized by microphthalmia, aplastic skin and agenesis of the corpus

57 Anophthalmia and microphthalmia are among the most common ocular birth de

58 ations of a dysplastic disc and colobomatous microphthalmia are rarely reported in patients with Kabu

59 Microphthalmias are rare disorders whose genetic bases a

60 expression to <40% of normal causes variable microphthalmia as a result of aberrant neural progenitor

61 irection to the nucleus to interact with the microphthalmia associated transcription factor (MITF).

62 ytes via activation of melanocyte-restricted microphthalmia-associated transcription factor (M-MITF)

63 Microphthalmia-associated transcription factor (MITF) ac

64 xpression in the RPE of transgenic mice, and microphthalmia-associated transcription factor (MITF) an

65 The transcription factors microphthalmia-associated transcription factor (Mitf) an

66 gulation of two important signaling factors, microphthalmia-associated transcription factor (MITF) an

67 ent pivotal signalling pathways (mediated by microphthalmia-associated transcription factor (MITF) an

68 Among them, microphthalmia-associated transcription factor (MITF) an

69 ility to potently downregulate expression of microphthalmia-associated transcription factor (MITF) an

70 enetic and chemical approach to identify the microphthalmia-associated transcription factor (MITF) as

71 ific expression in the eye, and we suggested microphthalmia-associated transcription factor (MITF) as

72 expression of the lineage survival oncogene microphthalmia-associated transcription factor (MITF) co

73 Increased expression of the Microphthalmia-associated transcription factor (MITF) co

74 Here we demonstrate that the Microphthalmia-associated transcription factor (MITF) di

75 g mediator of cell death (BIM) induction and microphthalmia-associated transcription factor (MITF) do

76 Interestingly, 3BP2 silencing decreased microphthalmia-associated transcription factor (MITF) ex

77 ntly a candidate approach was used to select microphthalmia-associated transcription factor (MITF) fo

78 e Type 2 is caused by mutations in the human Microphthalmia-associated transcription factor (MITF) ge

79 otic gene 3 (PAX3) is a key regulator of the microphthalmia-associated transcription factor (Mitf) in

80 Microphthalmia-associated transcription factor (MITF) is

81 The microphthalmia-associated transcription factor (MITF) is

82 The microphthalmia-associated transcription factor (MITF) is

83 Microphthalmia-associated transcription factor (MITF) is

84 Microphthalmia-associated transcription factor (MiTF) is

85 , we show that the lineage survival oncogene microphthalmia-associated transcription factor (MITF) is

86 The microphthalmia-associated transcription factor (MITF) is

87 The Microphthalmia-associated transcription factor (Mitf) is

88 Microphthalmia-associated transcription factor (MITF) is

89 Here, we show that the microphthalmia-associated transcription factor (Mitf) is

90 The transcription factor Microphthalmia-associated transcription factor (MITF) is

91 The microphthalmia-associated transcription factor (Mitf) is

92 regulation of the lineage addiction oncogene microphthalmia-associated transcription factor (MITF) is

93 Microphthalmia-associated transcription factor (MITF) is

94 Microphthalmia-associated transcription factor (MITF) is

95 The microphthalmia-associated transcription factor (MITF) is

96 The microphthalmia-associated transcription factor (MITF) is

97 The microphthalmia-associated transcription factor (MITF) is

98 Microphthalmia-associated transcription factor (MITF) is

99 ), developmental and oncogenic roles for the microphthalmia-associated transcription factor (MITF) pa

100 Microphthalmia-associated transcription factor (MITF) pl

101 The microphthalmia-associated transcription factor (MITF) pr

102 reveals that the melanocyte master regulator microphthalmia-associated transcription factor (MITF) pr

103 Microphthalmia-associated transcription factor (MITF) re

104 Microphthalmia-associated transcription factor (Mitf) re

105 s overexpressing the teneurin-1 ICD, several microphthalmia-associated transcription factor (MITF) ta

106 ites of genes coding melanophilin (MLPH) and microphthalmia-associated transcription factor (MITF) th

107 In the 25 yr since the gene encoding the microphthalmia-associated transcription factor (MITF) wa

108 PROM1); ribosomal protein L13A (RPL13A); and microphthalmia-associated transcription factor (MITF) we

109 tfa gene encodes a zebrafish ortholog of the microphthalmia-associated transcription factor (Mitf) wh

110 the nucleus, thereby reducing expression of microphthalmia-associated transcription factor (MITF), a

111 munohistochemical stains for MART-1, HMB-45, microphthalmia-associated transcription factor (MiTF), a

112 at results in a decrease in beta-catenin and microphthalmia-associated transcription factor (MITF), a

113 fenib resistance correlated with the loss of microphthalmia-associated transcription factor (MITF), a

114 ding a key regulator of RPE gene expression, microphthalmia-associated transcription factor (MITF), c

115 Microphthalmia-associated transcription factor (Mitf), d

116 We found that the transcription factor, microphthalmia-associated transcription factor (MITF), i

117 phosphorylation of p38 MAPK, which activates microphthalmia-associated transcription factor (MITF), k

118 gulated beta-catenin, beta-catenin-regulated microphthalmia-associated transcription factor (MITF), s

119 n is associated with increased expression of microphthalmia-associated transcription factor (Mitf), w

120 ssion of mast cell-specifying genes Hes1 and microphthalmia-associated transcription factor (Mitf).

121 6) in the melanoma-lineage-specific oncogene microphthalmia-associated transcription factor (MITF).

122 tive stress results in reduced expression of microphthalmia-associated transcription factor (MITF).

123 reas via the suppression of beta-catenin and microphthalmia-associated transcription factor (MITF).

124 oximately 6 microm) with their substrate the microphthalmia-associated transcription factor (MITF).

125 sed invasion and, often, decreased levels of microphthalmia-associated transcription factor (MITF).

126 -211, a known target of the master regulator microphthalmia-associated transcription factor (MITF).

127 nin formation in melanocytes by inducing the microphthalmia-associated transcription factor (MITF).

128 for the expression of the RPE key regulator microphthalmia-associated transcription factor (Mitf); h

129 blue) and immunohistochemical probes (S-100, microphthalmia-associated transcription factor [MiTF], H

130 through beta-catenin-mediated regulation of microphthalmia-associated transcription factor activity,

131 Regulation of TPH via microphthalmia-associated transcription factor and L-typ

132 Among the SKI targets were microphthalmia-associated transcription factor and Nr-CA

133 c acid, lipoic acid, and resveratrol reduced microphthalmia-associated transcription factor and tyros

134 ss the protein and mRNA expression levels of microphthalmia-associated transcription factor and tyros

135 e supporting the concept that the effects on microphthalmia-associated transcription factor are depen

136 ETV1 overexpression elevated microphthalmia-associated transcription factor expressio

137 functions by initially stimulating levels of microphthalmia-associated transcription factor expressio

138 Changes in endogenous microphthalmia-associated transcription factor expressio

139 Our findings suggest that modulation of microphthalmia-associated transcription factor expressio

140 t pathological group of tumours described as microphthalmia-associated transcription factor family tr

141 Silencing of tyrosinase or microphthalmia-associated transcription factor further d

142 cultures, cAMP-induced transcription of the microphthalmia-associated transcription factor gene (Mit

143 in traditional Chinese medicine, upregulated microphthalmia-associated transcription factor gene expr

144 tion and further confirm the central role of microphthalmia-associated transcription factor in melano

145 The microphthalmia-associated transcription factor is implic

146 Microphthalmia-associated transcription factor is though

147 noma and inversely correlates with FOXO3 and microphthalmia-associated transcription factor levels.

148 duced by a DGK inhibitor, but tyrosinase and microphthalmia-associated transcription factor messenger

149 The microphthalmia-associated transcription factor Mitf has

150 ced tanning response, we show that while the microphthalmia-associated transcription factor Mitf regu

151 h tooth shape; one region contained the gene microphthalmia-associated transcription factor Mitf that

152 angiomyolipoma, immunohistochemistry showed microphthalmia-associated transcription factor nuclear l

153 promoter, we identified agents that modulate microphthalmia-associated transcription factor promoter

154 luciferase reporter construct driven by the microphthalmia-associated transcription factor promoter,

155 Incubation with 8MOP stimulated microphthalmia-associated transcription factor protein a

156 sphodiesterase 4D3 inhibitors, T-oligos, and microphthalmia-associated transcription factor regulator

157 Overexpressed microphthalmia-associated transcription factor was capab

158 he essential osteoclast transcription factor microphthalmia-associated transcription factor were incr

159 Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because

160 Mutations in MITF (microphthalmia-associated transcription factor) and PAX3

161 ompanied by increased transcription of MITF (microphthalmia-associated transcription factor) and tyro

162 tified the melanocyte master regulator MITF (microphthalmia-associated transcription factor) as the t

163 0, controls the expression of another, MITF (microphthalmia-associated transcription factor), which i

164 in copper status affected the expression of microphthalmia-associated transcription factor, a transc

165 in and immunohistochemical markers (melan-A, microphthalmia-associated transcription factor, and SRY-

166 ult and neonatal melanocytes, SOX9 regulates microphthalmia-associated transcription factor, dopachro

167 ression of the melanocyte determining factor microphthalmia-associated transcription factor, elevated

168 In vivo Brn-2 represses expression of the microphthalmia-associated transcription factor, MITF, to

169 virus (SFFV) proviral integration 1 (PU.1), microphthalmia-associated transcription factor, NF-kappa

170 ag GTPases bound and regulated activation of microphthalmia-associated transcription factor, suggesti

171 on of the master regulator of melanogenesis, microphthalmia-associated transcription factor, thus sti

172 se that co-expressed SOX2 and either CK20 or microphthalmia-associated transcription factor, which ar

173 pment from the neural crest, SOX10 regulates microphthalmia-associated transcription factor, which co

174 se element-binding protein and expression of microphthalmia-associated transcription factor, which en

175 igration and survival by directly repressing microphthalmia-associated transcription factor-M and FOX

176 FOXO3, whereas enhanced expression of either microphthalmia-associated transcription factor-M or FOXO

177 AMP response element-binding protein and the microphthalmia-associated transcription factor.

178 nd is not dependent on the central regulator microphthalmia-associated transcription factor.

179 developing retina led to varying degrees of microphthalmia at birth, presumably because of elevated

180 that Fz5(-/-) mice exhibit mild coloboma and microphthalmia at ~50% penetrance.

181 The Microphthalmia basic-Helix-Loop-Helix-Leucine Zipper (bH

182 oter region of Mlsn1 contains four potential microphthalmia binding sites including an M box, a trans

183 m cell (hiPSC) lines from an individual with microphthalmia caused by a functional null mutation (R20

184 s (cataract, anterior segment dysgenesis and microphthalmia) co-segregated with a translocation, t(5;

185 Microphthalmia, coloboma and cataract are part of a spec

186 Microphthalmia, coloboma and persistent fetal vasculatur

187 ve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corne

188 n with presumed male lethality and comprises microphthalmia, congenital cataracts, radiculomegaly, an

189 ed male-lethal disorder also known as MIDAS (microphthalmia, dermal aplasia, and sclerocornea).

190 ) mouse mutant is characterized by bilateral microphthalmia due to a failure of lens morphogenesis.

191 Adult CREB-2-/- mice displayed microphthalmia due to the complete absence of a lens.

192 major defects in eye development, including microphthalmia, failed lens differentiation, and hyperpl

193 The microphthalmia family of transcription factors (MiT/TFEs

194 The mice had microphthalmia; fibrovascular, retrolental tissue contai

195 ened 75 individuals with anophthalmia and/or microphthalmia for mutations in the human RAX gene.

196 o interrogate patients with anophthalmia and microphthalmia for new causative genes.

197 elanocytes; mice deficient for a functional (Microphthalmia) gene product lack all pigment cells.

198 th autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family.

199 ations in the related human CHX10 gene cause microphthalmia in a subset of families, and, therefore,

200 sx2 gene resulted in optic nerve aplasia and microphthalmia in all transgenic animals.

201 ly, thalidomide-induced limb deformities and microphthalmia in chicken embryos could be rescued by a

202 anterior polar cataract in heterozygotes and microphthalmia in homozygotes.

203 ions in MITF have never been associated with microphthalmia in humans.

204 lity to identify a cause of anophthalmia and microphthalmia in many individuals.

205 partment resulted in bilateral cataracts and microphthalmia in mice by 2 weeks of age.

206 st for all individuals with anophthalmia and microphthalmia in order to provide appropriate managemen

207 in renal cells and with pronephric cysts and microphthalmia in zebrafish embryos.

208 resultant mutant protein caused coloboma and microphthalmia in zebrafish, and disruption of the apica

209 birth defects, such as limb truncations and microphthalmia, in humans.

210 lly phenocopies the rx3 mutation, leading to microphthalmia, incomplete eye maturation, and dramatic

211 of RPE-specific markers (cytokeratin, CD68, microphthalmia-inducing transcription factor [MITF]) wer

212 anterior segment dysgenesis (ASD), including microphthalmia, iris hypoplasia, irdiocorneal angle malf

213 Microphthalmia is a relatively common ocular malformatio

214 The etiology of anophthalmia and microphthalmia is diverse, with multiple genetic mutatio

215 Lenz microphthalmia is inherited in an X-linked recessive pat

216 lite markers distributed around the CNA2 and microphthalmia loci (arCMIC, adCMIC, NNO1, and CHX10) us

217 We report here the mapping of a human microphthalmia locus on chromosome 14q24.3, the cloning

218 D, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.

219 ch the autosomal dominant form of congenital microphthalmia may arise.

220 recessive nanophthalmos (NNO) and posterior microphthalmia (MCOP) from different ethnicities.

221 an X-linked recessive pattern and comprises microphthalmia, mental retardation, and skeletal and oth

222 To determine a role for microphthalmia (mi) during eye development, the effects

223 Microphthalmia (Mi) is a basic helix-loop-helix-leucine

224 Microphthalmia (Mi) is a bHLHZip transcription factor th

225 arget of the melanocyte transcription factor Microphthalmia (Mi), a factor for which deficiency in hu

226 d protein kinase-mediated phosphorylation of Microphthalmia (Mi), a lineage-restricted transcription

227 ns at loci encoding the transcription factor Microphthalmia (Mi), the cytokine receptor c-Kit, or its

228 In this family, microphthalmia, microcephaly, intellectual disability, a

229 mutations in two families with non-syndromic microphthalmia (MIM 251600), cataracts and severe abnorm

230 utive expression of the transcription factor microphthalmia (MiTF) through the cooperative, unschedul

231 ucine zipper transcription factor related to microphthalmia (Mitf), a gene known to be required for d

232 port of rescue of retinal proliferation in a microphthalmia model by deletion of a cell cycle regulat

233 t amount of the proliferation defect in this microphthalmia model system.

234 pment results in congenital defects, such as microphthalmia or anophthalmia, or a change of cell fate

235 days 1-4, including severe cryptophthalmos, microphthalmia or anophthalmia, retinal dysplasia, kerat

236 dline, cleft lip, extensive exencephaly, and microphthalmia or anophthalmia.

237 ed by ocular abnormalities such as coloboma, microphthalmia, or even anophthalmia.

238 These include microphthalmia, perinatal lethality, and epithelial canc

239 ular defects and early lethality, as well as microphthalmia, periocular edema and absence of the ante

240 Caspase-3-deficient animals display marginal microphthalmia, peripapillary retinal dysplasia, delayed

241 with ocular retardation (the or-J allele), a microphthalmia phenotype, have a null mutation in the re

242 a multicopy YAC transgenic line results in a microphthalmia phenotype.

243 cterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without ne

244 tionally mutant mice, which exhibited severe microphthalmia, reduced pupillary openings, disrupted fi

245 ed the phosphorylation and expression of the microphthalmia-related transcription factor.

246 synthetic pathways: pigmentation defects and microphthalmia result from deficiencies in a GTP synthes

247 hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalange

248 /6 background) display reduced body size and microphthalmia, similar to ATF4-null animals.

249 es the developmental defects anophthalmia or microphthalmia, similar to human SOX2-deficiency defects

250 account for 20% of anophthalmia (no eye) and microphthalmia (small eye) birth defects in humans-yet i

251 ans with anophthalmia (absent eye) or severe microphthalmia (small eye) show haploid insufficiency du

252 e and humans causes congenital blindness and microphthalmia (small eyes).

253 Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and

254 elated developmental disorder, Bosma Arhinia Microphthalmia Syndrome (BAMS).

255 prior finding with a single family with Lenz microphthalmia syndrome.

256 Microphthalmia/TFE (MiT) transcription factors (TFs), su

257 The microphthalmia transcription factor (Mitf) activates mel

258 ne contains two potential E-box elements for microphthalmia transcription factor (MITF) and three put

259 Microphthalmia transcription factor (MITF) is a basic he

260 Microphthalmia transcription factor (Mitf) is a melanocy

261 ted HINT1) in regulating the activity of the microphthalmia transcription factor (MITF) is of great i

262 The microphthalmia transcription factor (MITF) is required f

263 Microphthalmia transcription factor (MITF) regulates the

264 These stimuli also provoked microphthalmia transcription factor (MITF) translocation

265 cells and expressed cytokeratin, RPE65, and microphthalmia transcription factor (MITF) when cocultur

266 The microphthalmia transcription factor (MITF), a basic-heli

267 he master melanocyte differentiation factor, microphthalmia transcription factor (MITF), regulates ce

268 of mast cells by inducing the expression of microphthalmia transcription factor (Mitf).

269 rectly or synergistically by Pax3, Sox10 and microphthalmia transcription factor (MITF).

270 tabilization, and increased transcription of microphthalmia transcription factor and its target genes

271 samples that was paralleled by increases in microphthalmia transcription factor and tyrosinase immun

272 stochemistry for phospho-ERK, cyclin D1, and microphthalmia transcription factor expression in 17 Spi

273 of cyclin D1 expression and lower levels of microphthalmia transcription factor expression suggestin

274 ti signal protein and enhanced expression of microphthalmia transcription factor in the midphase of t

275 metalloproteinase (MMP2/MMP9) expression and microphthalmia transcription factor upregulation.

276 thesis by increasing the expression of MITF (microphthalmia transcription factor) and TYR (tyrosinase

277 Mutations in MITF (microphthalmia transcription factor) cause Waardenburg s

278 n and activation of the transcription factor Microphthalmia transcription factor, acting at E-box ele

279 Microphthalmia transcription factor, an MiT transcriptio

280 aused by overexpression of NFATc1, PU.1, and microphthalmia transcription factor, downstream targets

281 and causes a constitutive activation of the microphthalmia transcription factor, which is involved i

282 d maturation by inhibiting the expression of Microphthalmia transcription factor.

283 E3, homologues of TFEB belonging to the same microphthalmia/transcription factor E (MiT/TFE) family,

284 gree in which cornea plana cosegregated with microphthalmia was investigated by linkage analysis and

285 proposed that OFCD and MAA2-associated Lenz microphthalmia were allelic, and we found different fram

286 PHPV and microphthalmia were found in 100% of Ski-/- fetuses.

287 n 7 of NAA10, who presents most notably with microphthalmia, which confirms a prior finding with a si

288 Two loci associated with this syndrome, MAA (microphthalmia with associated anomalies) and MAA2, are

289 mice, and a characteristic eye phenotype of microphthalmia with cataracts in all mice carrying the t

290 fication causes severe defects, resulting in microphthalmia with coloboma, disturbed lamination, and

291 Transgenic F1 mice exhibit microphthalmia with complete coat color dilution.

292 s of development, this treatment resulted in microphthalmia with concomitant disruption of the develo

293 he zebrafish results in shortened body axis, microphthalmia with disorganized lens, microcephaly, red

294 mutant develops severe retinal coloboma and microphthalmia with full penetrance.

295 Microphthalmia with linear skin defects (MLS) is an X-li

296 Microphthalmia with linear skin defects (MLS) is an X-li

297 Microphthalmia with linear skin defects (MLS) syndrome i

298 Girls with MLS syndrome have microphthalmia with linear skin defects of face and neck

299 Microphthalmia with linear skin defects syndrome (MLS) i

300 Deletion of connexin (Cx)50 produces microphthalmia with nuclear cataracts.

301 e show that Gja8tm1 (alpha8-/-) mice develop microphthalmia with small lenses and nuclear cataracts,