Recurrence ofSOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

Subjects

Subjects :

SOXB1 Transcription Factors
Family health
Genetics
Pathology
medicine.medical_specialty
Biology
HMGB Proteins
SOX2 anophthalmia syndrome
Anophthalmos
medicine
Missense mutation
Base sequence
Congenital disease
Genetics (clinical)

Details

ISSN :

15524833 and 15524825

Database :

OpenAIRE

Journal :

American Journal of Medical Genetics Part A

Accession number :

edsair.doi...........f07f639646e04ca9d9ceff6641e1073d

Full Text :

https://doi.org/10.1002/ajmg.a.31114