New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46,XY DSD...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Werner, Ralf, Mönig, Isabel, Lünstedt, Ralf, Wünsch, Lutz, Thorns, Christoph, Reiz, Benedikt, Krause, Alexandra, Schwab, Karl Otfried, Binder, Gerhard, Holterhus, Paul-Martin, Hiort, Olaf
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5411087/
https://ncbi.nlm.nih.gov/pubmed/28459839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0176720
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