Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

PURPOSE: XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all pat...

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Detalles Bibliográficos
Autores principales: McElreavey, Ken, Jorgensen, Anne, Eozenou, Caroline, Merel, Tiphanie, Bignon-Topalovic, Joelle, Tan, Daisylyn Senna, Houzelstein, Denis, Buonocore, Federica, Warr, Nick, Kay, Raissa G. G., Peycelon, Matthieu, Siffroi, Jean-Pierre, Mazen, Inas, Achermann, John C., Shcherbak, Yuliya, Leger, Juliane, Sallai, Agnes, Carel, Jean-Claude, Martinerie, Laetitia, Le Ru, Romain, Conway, Gerard S., Mignot, Brigitte, Van Maldergem, Lionel, Bertalan, Rita, Globa, Evgenia, Brauner, Raja, Jauch, Ralf, Nef, Serge, Greenfield, Andy, Bashamboo, Anu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/
https://www.ncbi.nlm.nih.gov/pubmed/31337883
http://dx.doi.org/10.1038/s41436-019-0606-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/
https://www.ncbi.nlm.nih.gov/pubmed/31337883
http://dx.doi.org/10.1038/s41436-019-0606-y

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