Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome-Reference-Cited by-同舟云学术

Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome

Published:2018-04-25 Issue:2 Volume:94 Page:269-270
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Wu Q.¹,Wang C.¹,Shi H.¹,Mei S.¹,Liu L.²,Xin Y.³,Kong X.¹

Affiliation:

1. Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology; The First Affiliated Hospital of Zhengzhou University; Zhengzhou China

2. Department of Rheumatology; The First Affiliated Hospital of Zhengzhou University; Zhengzhou China

3. Department of Obstetrics and Gynecology; The Zhengzhou Central Hospital of Zhengzhou University; Zhengzhou China

Funder

Science Foundation for Young Scientists of The First Affiliated Hospital of Zhengzhou University

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13248/fullpdf

Reference5 articles.

1. Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity;Komori;Arch Gynecol Obstet,1998

2. Long-term follow up and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome;Cheikhelard;J Urol,2008

3. Novel and recurrent mutations in patients with androgen insensitivity syndromes;Ledig;Horm Res,2005

4. The androgen receptor gene mutations database: 2012 update;Gottlieb;Hum Mutat,2012

5. The prenatal genetic diagnosis of a family with complete androgen insensitivity syndrome;Wu;Zhonghua Yi Xue Za Zhi,2016

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1. Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis;Gene;2023-04

2. New mutation causing androgen insensitivity syndrome – a case report and review of literature;Gynecological Endocrinology;2018-11-19