Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia. [electronic resource]
- Clinical genetics 2015
- 68-73 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1399-0004
10.1111/cge.12329 doi
Adolescent Adult Aged Analysis of Variance Aniridia--genetics Base Sequence Brazil Child Craniofacial Abnormalities--pathology Eye Abnormalities--pathology Eye Proteins--genetics Female Homeodomain Proteins--genetics Humans Male Middle Aged Molecular Sequence Data Mutation--genetics PAX6 Transcription Factor Paired Box Transcription Factors--genetics Pedigree Phenotype Repressor Proteins--genetics Sequence Analysis, DNA