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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome

We report a Vietnamese family with complete androgen insensitivity syndrome that included several phenotypic females who have a 46,XY karyotype with an extremely rare mutation of the androgen receptor gene. The proband was a 27-year-old phenotypic adult female referred to our department for karyotyp...

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Detalles Bibliográficos
Autores principales: Ha, Thi Minh Thi, Le, Phan Tuong Quynh, Le, Thanh Nha Uyen, Hoang, Thi Thuy Yen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nagoya University 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10281845/
https://www.ncbi.nlm.nih.gov/pubmed/37346838
http://dx.doi.org/10.18999/nagjms.85.2.362