Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

CONTEXT: The genetic basis of human sex development is slowly being elucidated, and >40 different genetic causes of differences (or disorders) of sex development (DSDs) have now been reported. However, reaching a specific diagnosis using traditional approaches can be difficult, especially in adul...

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Detalles Bibliográficos
Autores principales: Buonocore, Federica, Clifford-Mobley, Oliver, King, Tom F J, Striglioni, Niccolò, Man, Elim, Suntharalingham, Jenifer P, del Valle, Ignacio, Lin, Lin, Lagos, Carlos F, Rumsby, Gill, Conway, Gerard S, Achermann, John C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Clinical Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6855215/
https://www.ncbi.nlm.nih.gov/pubmed/31745530
http://dx.doi.org/10.1210/js.2019-00306

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6855215/
https://www.ncbi.nlm.nih.gov/pubmed/31745530
http://dx.doi.org/10.1210/js.2019-00306

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