Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like domain containing 1 (MAMLD1) gene, which was ide...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Kalfa, Nicolas, Fukami, Maki, Philibert, Pascal, Audran, Francoise, Pienkowski, Catherine, Weill, Jacques, Pinto, Graziella, Manouvrier, Sylvie, Polak, Michel, Ogata, Totsumo, Sultan, Charles
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3316539/
https://ncbi.nlm.nih.gov/pubmed/22479329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0032505
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados