Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients

Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients

Abstract Background Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degrees of undermasculinization in 46, XY individuals. The aim of this study was to investigate the frequency of pathogenic variants in the AR gene in a cohort of 46,...

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Bibliographic Details
Main Authors: Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Gorjana Robevska, Katie L. Ayers, Andrew H. Sinclair, Sultana M. H. Faradz
Format: Article
Language:English
Published: SpringerOpen 2021-02-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Androgen receptor
Androgen insensitivity syndrome
Disorders of sex development (DSD)
Molecular genetics
Sanger sequencing
Undermasculinization
Online Access:https://doi.org/10.1186/s43042-021-00134-3

Internet

https://doi.org/10.1186/s43042-021-00134-3

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