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

Ali, Manir

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. [electronic resource] - Molecular vision Jun 2010 - 1162-8 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1090-0535


Amino Acid Sequence
Aphakia--complications
Base Sequence
Coloboma--complications
Cornea--abnormalities
DNA Mutational Analysis
Family
Female
Forkhead Transcription Factors--chemistry
Homozygote
Humans
Male
Mexico
Microphthalmos--complications
Molecular Sequence Data
Mutation--genetics
Optic Disk--abnormalities
Pakistan
Pedigree
Syndrome