Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia a...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Camats, Núria, Fernández-Cancio, Mónica, Audí, Laura, Mullis, Primus E., Moreno, Francisca, González Casado, Isabel, López-Siguero, Juan Pedro, Corripio, Raquel, Bermúdez de la Vega, José Antonio, Blanco, José Antonio, Flück, Christa E.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4646284/
https://ncbi.nlm.nih.gov/pubmed/26580071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0142831
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