Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

Chassaing, N

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. [electronic resource] - Clinical genetics Oct 2014 - 326-34 p. digital

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

1399-0004

10.1111/cge.12275 doi


Adolescent
Adult
Anophthalmos--diagnosis
Child
Child, Preschool
Eye Proteins--genetics
Female
Forkhead Transcription Factors--genetics
Genetic Heterogeneity
Growth Differentiation Factor 6--genetics
Homeodomain Proteins--genetics
Humans
Infant
Male
Microphthalmos--diagnosis
Otx Transcription Factors--genetics
PAX6 Transcription Factor
Paired Box Transcription Factors--genetics
Point Mutation--genetics
Repressor Proteins--genetics
SOXB1 Transcription Factors--genetics
Transcription Factors--genetics