Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
about
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc colobomaA case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1Chromosome abnormalities and the genetics of congenital corneal opacification.Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome22q11.2 deletion syndromeOcular involvement in primary immunodeficiency diseases.A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma.FOXC1-associated phenotypes in humans may not always exhibit corneal neovascularization.
P2860
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P2860
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年學術文章
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name
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
@en
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
@nl
type
label
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
@en
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
@nl
prefLabel
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
@en
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
@nl
P2093
P2860
P356
P1476
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
@en
P2093
Amy M Mach
B Michael Walker
Brian J Forbes
Carrie Zabel
Deborah M Alcorn
Dennis R Anderson
Elaine H Zackai
Gil Binenbaum
Karlene Coleman
Margaret Adam
P2860
P304
P356
10.1002/AJMG.A.32156
P407
P577
2008-04-01T00:00:00Z