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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4646284/
https://www.ncbi.nlm.nih.gov/pubmed/26580071
http://dx.doi.org/10.1371/journal.pone.0142831

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4646284/
https://www.ncbi.nlm.nih.gov/pubmed/26580071
http://dx.doi.org/10.1371/journal.pone.0142831

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