MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female.

Subjects

Subjects :

Female
Humans
46, XX Disorders of Sex Development genetics
DNA-Binding Proteins genetics
Homozygote
Mutation, Missense
Nuclear Proteins genetics
Transcription Factors genetics
Virilism

Details

Language :

English

ISSN :

0065-2598

Volume :

707

Database :

MEDLINE

Journal :

Advances in experimental medicine and biology

Publication Type :

Academic Journal

Accession number :

21691970

Full Text :

https://doi.org/10.1007/978-1-4419-8002-1_28