A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

Subjects

Subjects :

Child
Codon, Nonsense
Female
Humans
Male
PAX6 Transcription Factor
Parents
Aniridia genetics
Ataxia genetics
Eye Proteins genetics
Homeodomain Proteins genetics
Intellectual Disability genetics
Paired Box Transcription Factors genetics
Repressor Proteins genetics

Details

Language :

English

ISSN :

1552-4833

Volume :

143A

Issue :

15

Database :

MEDLINE

Journal :

American journal of medical genetics. Part A

Publication Type :

Academic Journal

Accession number :

17595013

Full Text :

https://doi.org/10.1002/ajmg.a.31808