Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome-Reference-Cited by-同舟云学术

Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome

Published:2019-12 Issue: Volume:152 Page:108489
ISSN:0039-128X
Container-title:Steroids
language:en
Short-container-title:Steroids

Author:

Kharrat Maher^ORCID,Tajouri Asma,Nacef Imen Ben,Hizem Cyrine,Trabelsi Mediha,Maazoul Faouzi,M'rad Ridha,Chaabouni Habiba Bouhamed

Publisher

Elsevier BV

Subject

Organic Chemistry,Clinical Biochemistry,Pharmacology,Endocrinology,Molecular Biology,Biochemistry

Reference36 articles.

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3. A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family;Decaestecker;Fertil. Steril.,2008

4. Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism;Brown;Am. J. Hum. Genet.,1989

5. The human androgen receptor: domain structure, genomic organization and regulation of expression;Brinkmann;J. Steroid Biochem.,1989

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1. Complete androgen insensitivity syndrome coexisting with müllerian duct remnants: a case report and literature review;Frontiers in Pediatrics;2024-06-04

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