OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
about
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese familyThe use of neuroimaging for assessing disorders of pituitary development.Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsWhole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmiaMutations in MAB21L2 result in ocular Coloboma, microcornea and cataractsBMP4 loss-of-function mutations in developmental eye disorders including SHORT syndromeEye development genes and known syndromesHSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES CellsGenomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.Analysis of FOXD3 sequence variation in human ocular disease.ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreousDeletion of OTX2 in neural ectoderm delays anterior pituitary developmentNovel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.Whole-genome copy number variation analysis in anophthalmia and microphthalmia.Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case feport and literature review.Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Genome-Wide Target Analyses of Otx2 Homeoprotein in Postnatal CortexChondroitin Sulfate Is Required for Onset and Offset of Critical Period Plasticity in Visual CortexOTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.Midbrain-hindbrain involvement in septo-optic dysplasia.Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review
P2860
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P2860
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
description
2011 nî lūn-bûn
@nan
2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年学术文章
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2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
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2011年学术文章
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2011年學術文章
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name
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
@ast
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
@en
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
@nl
type
label
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
@ast
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
@en
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
@nl
prefLabel
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
@ast
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
@en
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
@nl
P2093
P2860
P1433
P1476
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
@en
P2093
A Schneider
E V Semina
K F Schilter
T Bardakjian
P2860
P304
P356
10.1111/J.1399-0004.2010.01450.X
P577
2011-02-01T00:00:00Z