Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.

Subjects

Subjects :

Anophthalmos pathology
Eye pathology
Female
Fetal Diseases genetics
Fetal Diseases pathology
Genital Diseases, Female congenital
Humans
Mutation
Phenotype
Pregnancy
SOXB1 Transcription Factors
Syndrome
Anophthalmos genetics
Esophageal Atresia genetics
Genital Diseases, Female genetics
HMGB Proteins genetics
Mosaicism
Transcription Factors genetics

Details

Language :

English

ISSN :

1552-4825

Volume :

143A

Issue :

3

Database :

MEDLINE

Journal :

American journal of medical genetics. Part A

Publication Type :

Academic Journal

Accession number :

17219395

Full Text :

https://doi.org/10.1002/ajmg.a.31524