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Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis

Objective: Swyer syndrome, or 46, XY complete gonadal dysgenesis, is a disorder of human sexual development which present with female external genitalia, lack of female reproductive organs, and a 46, XY karyotype. Many genes that participate in human sexual development have been implicated in the pa...

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Principais autores: Pei-Hsiu Yu, Meng-Che Tsai, Chun-Ting Chiang, Han-Yu Wang, Pao-Lin Kuo
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2022-09-01
Serier:Taiwanese Journal of Obstetrics & Gynecology
Fag:
Gonadal dysgenesis
46,XY
MAP3K1
Missense mutation
Online adgang:http://www.sciencedirect.com/science/article/pii/S1028455922002297
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