Aphakia, congenital primary

Developmental and genetic diseases

1p32 Google OMIM PubMed

Aphakia, congenital primary

*Gene map locus 1p32

[Clinical features: absence of the lens; severe secondary ocular defects, including a complete aplasia of the anterior segment of the eye]

[Inheritance: autosomal recessive]


Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans	Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans	Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans
American Journal of Human Genetics	American Journal of Human Genetics	American Journal of Human Genetics


Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans	A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family	Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma
American Journal of Human Genetics	Molecular Vision	Molecular Vision


Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma
Molecular Vision

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Edited by Aldo Campana, August 21, 2012