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Article

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients.

Asian journal of andrology - 1 Jan 2000

Yuan Shi-Min, Zhang Ya-Nan, Du Juan, Li Wen, Tu Chao-Feng, Meng Lan-Lan, Lin Ge, Lu Guang-Xiu, Tan Yue-Qiu

Abstract excerpt

Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from...

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Identifiers

PMID: 29785970
DOI: 10.4103/aja.aja_17_18
PMCID: PMC6116692

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