46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene

Inactivating mutations of the 5α-steroid reductase type-2 (SRD5A2) gene result in a broad spectrum of masculinization defects, ranging from a male phenotype with hypospadias to a female phenotype with Wolffian structures. Molecular studies of the SRD5A2 revealed a new heterozygous gene variant withi...

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Detalles Bibliográficos
Autores principales: Chávez, Bertha, Ramos, Luis, Gómez, Rita, Vilchis, Felipe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113269/
https://www.ncbi.nlm.nih.gov/pubmed/25077171
http://dx.doi.org/10.1002/mgg3.76

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113269/
https://www.ncbi.nlm.nih.gov/pubmed/25077171
http://dx.doi.org/10.1002/mgg3.76

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