A hemizygous mutation in the androgen receptor gene causes different phenotypes of androgen insensitivity syndrome in two siblings by disrupting the nuclear translocation-Reference-Cited by-同舟云学术

A hemizygous mutation in the androgen receptor gene causes different phenotypes of androgen insensitivity syndrome in two siblings by disrupting the nuclear translocation

Published:2020-05-20 Issue:5 Volume:295 Page:1103-1111
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Liu Chunjie,Lyu Yongfen,Li Pin^ORCID

Funder

the Key Subject Program from Shanghai Municipal Commission of Health and Family Planning

Yangtze River Delta Project of Shanghai Science and Technology Commission

Shanghai Collaborative Innovation Center for Translational Medicine

Medical Professionals Cross Research Fund of Shanghai Jiao Tong University

Jin Lei Pediatric Endocrinology Growth Research Fund for Young Physicians

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00438-020-01686-6.pdf

Reference27 articles.

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2. Batista RL, Costa EMF et al (2018) Androgen insensitivity syndrome: a review. Arch Endocrinol Metab 62(2):227–235. https://doi.org/10.20945/2359-3997000000031

3. Boehmer AL, Brinkmann O et al (2001) Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab 86(9):4151–4160. https://doi.org/10.1210/jcem.86.9.7825

4. Centenera MM, Harris JM et al (2008) The contribution of different androgen receptor domains to receptor dimerization and signaling. Mol Endocrinol 22(11):2373–2382. https://doi.org/10.1210/me.2008-0017

5. Chauhan P, Rani A et al (2018) Complete androgen insensitivity syndrome due to mutations in the dna-binding domain of the human androgen receptor gene. Sex Dev. https://doi.org/10.1159/000492261

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2. Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report;World Journal of Clinical Cases;2021-12-16