Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes
about
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsEye development genes and known syndromesLoss of Msx2 function down-regulates the FoxE3 expression and results in anterior segment dysgenesis resembling Peters anomaly.Genetics of anterior segment dysgenesis disorders.Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for researchPanel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
P2860
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes
description
2010 nî lūn-bûn
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2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Examination of SOX2 in variabl ...... mutations in other phenotypes
@ast
Examination of SOX2 in variabl ...... mutations in other phenotypes
@en
type
label
Examination of SOX2 in variabl ...... mutations in other phenotypes
@ast
Examination of SOX2 in variabl ...... mutations in other phenotypes
@en
prefLabel
Examination of SOX2 in variabl ...... mutations in other phenotypes
@ast
Examination of SOX2 in variabl ...... mutations in other phenotypes
@en
P2093
P2860
P1433
P1476
Examination of SOX2 in variabl ...... mutations in other phenotypes
@en
P2093
Adele Schneider
Elena V Semina
Linda M Reis
Rebecca C Tyler
Tanya Bardakjian
P2860
P304
P577
2010-04-28T00:00:00Z