Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

Dysgenesis of the anterior segment of the eye delineates a spectrum of human developmental disorders that show wide phenotypic and genetic heterogeneity. It is also frequently associated with cataracts and glaucoma resulting in visual disability in childhood. The recently described forkhead transcri...

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Bibliographic Details
Published in:	Human molecular genetics Vol. 10; no. 3; pp. 231 - 236
Main Authors:	SEMINA, Elena V, BROWNELL, Isaac, MINTZ-HITTNER, Helen A, MURRAY, Jeffrey C, JAMRICH, Milan
Format:	Journal Article
Language:	English
Published:	Oxford Oxford University Press 01-02-2001
Subjects:	Amino Acid Sequence Animals Anterior Chamber - abnormalities anterior segment ocular dysgenesis Base Sequence Biological and medical sciences Cataract - genetics Cataract - pathology DNA - chemistry DNA - genetics DNA Mutational Analysis Epithelium - metabolism Epithelium - pathology Family Health Forkhead Transcription Factors FOXE3 gene Frameshift Mutation Gene Expression Gene Frequency Humans Lens diseases Lens, Crystalline - metabolism Lens, Crystalline - pathology Medical sciences Mice Molecular Sequence Data Mutagenesis, Insertional Mutation Mutation, Missense Ophthalmology Pedigree Sequence Homology, Amino Acid Transcription Factors - genetics Human Eye disease Cataract Phenotype Lens disease Gene Nucleotide sequence Homology Mutation Gene expression Transcription factor Aminoacid sequence
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