A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome

Background: Complete androgen insensitivity syndrome (CAIS, OMIM; 300068) is a disorder of sex development with X-linked recessive inheritance. Cases of CAIS usually present as female phenotype, with primary amenorrhea and/or inguinal hernia. Family aggregation is a rare scenario. Methods: This stud...

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Detalles Bibliográficos
Autores principales: Ding, Leilei, Zhang, Duoduo, Yao, Fengxia, Luo, Min, Deng, Shan, Tian, Qinjie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236311/
https://www.ncbi.nlm.nih.gov/pubmed/37274790
http://dx.doi.org/10.3389/fgene.2023.1140083

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236311/
https://www.ncbi.nlm.nih.gov/pubmed/37274790
http://dx.doi.org/10.3389/fgene.2023.1140083

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