Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations
about
Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment diseaseLoss of the six3/6 controlling pathways might have resulted in pinhole-eye evolution in NautilusMolecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Chromosomal microarray analysis in ocular developmental anomalies.Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature
P2860
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P2860
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Targeted 'next-generation' seq ...... SOX2, OTX2 and FOXE3 mutations
@ast
Targeted 'next-generation' seq ...... SOX2, OTX2 and FOXE3 mutations
@en
Targeted 'next-generation' seq ...... SOX2, OTX2 and FOXE3 mutations
@nl
type
label
Targeted 'next-generation' seq ...... SOX2, OTX2 and FOXE3 mutations
@ast
Targeted 'next-generation' seq ...... SOX2, OTX2 and FOXE3 mutations
@en
Targeted 'next-generation' seq ...... SOX2, OTX2 and FOXE3 mutations
@nl
prefLabel
Targeted 'next-generation' seq ...... SOX2, OTX2 and FOXE3 mutations
@ast
Targeted 'next-generation' seq ...... SOX2, OTX2 and FOXE3 mutations
@en
Targeted 'next-generation' seq ...... SOX2, OTX2 and FOXE3 mutations
@nl
P2093
P2860
P356
P1433
P1476
Targeted 'next-generation' seq ...... SOX2, OTX2 and FOXE3 mutations
@en
P2093
Adele Schneider
Anne M Slavotinek
Elliott H Sherr
Jason Flannick
Leath Tonkin
Mani Yahyavi
Nelson Lopez Jimenez
Tanya Bardakjian
P2860
P2888
P356
10.1186/1471-2350-12-172
P577
2011-12-28T00:00:00Z