Novel SOX2 partner-factor domain mutation in a four-generation family

Novel SOX2 partner-factor domain mutation in a four-generation family

Item
http://www.wikidata.org/entity/Q34327268
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsExome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypesSox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesisIsolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringEye development genes and known syndromesGenetics of anterior segment dysgenesis disorders.Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.DNA-mediated cooperativity facilitates the co-selection of cryptic enhancer sequences by SOX2 and PAX6 transcription factors.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?
P2860

Novel SOX2 partner-factor domain mutation in a four-generation family

Item
http://www.wikidata.org/entity/Q34327268
description
2009 nî lūn-bûn
@nan
2009 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Novel SOX2 partner-factor domain mutation in a four-generation family
@ast
Novel SOX2 partner-factor domain mutation in a four-generation family
@en
Novel SOX2 partner-factor domain mutation in a four-generation family
@nl
type
label
Novel SOX2 partner-factor domain mutation in a four-generation family
@ast
Novel SOX2 partner-factor domain mutation in a four-generation family
@en
Novel SOX2 partner-factor domain mutation in a four-generation family
@nl
prefLabel
Novel SOX2 partner-factor domain mutation in a four-generation family
@ast
Novel SOX2 partner-factor domain mutation in a four-generation family
@en
Novel SOX2 partner-factor domain mutation in a four-generation family
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Novel SOX2 partner-factor domain mutation in a four-generation family
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932