Fernandes-Lima, Z S

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