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...

Descripción completa

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

Internet

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

Ejemplares similares