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A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review

BACKGROUND: Disorders of sex development (DSD) can result from congenital defect in sex determining pathway. Mitogen‐activated protein kinase kinase kinase 1 (MAP3K1) is one of the commonest genes that has been identified to cause 46, XY DSD. It can present as complete or partial gonadal dysgenesis...

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Detalles Bibliográficos
Autores principales:	Al Shamsi, Aisha, Al Hassani, Noura, Hamchou, Moustafa, Almazrouei, Raya, Mhanni, Aziz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667354/ https://www.ncbi.nlm.nih.gov/pubmed/32986312 http://dx.doi.org/10.1002/mgg3.1514

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