An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam

SRD5A2 (steroid 5-alpha-reductase 2) mutation, which impairs 5α-reductase-2 enzyme activity, is among the causes of 46,XY disorders of sex development (DSD). Here, we report a rare pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro) of SRD5A2 gene in a compound heterozygous state f...

Descripción completa

Detalles Bibliográficos
Autores principales: Le, Phan Tuong Quynh, Le, Thanh Nha Uyen, Nguyen, Thi Thanh Binh, Nguyen, Minh Thao, Ha, Thi Minh Thi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8977313/
https://www.ncbi.nlm.nih.gov/pubmed/35386187
http://dx.doi.org/10.1155/2022/6025916

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8977313/
https://www.ncbi.nlm.nih.gov/pubmed/35386187
http://dx.doi.org/10.1155/2022/6025916

Ejemplares similares