ARandSRD5A2gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity-Reference-Cited by-同舟云学术

ARandSRD5A2gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity

Published:2014-04-16 Issue:4 Volume:2 Page:572-578
ISSN:2047-2919
Container-title:Andrology
language:en
Short-container-title:Andrology

Author:

Akcay T.¹,Fernandez-Cancio M.²,Turan S.¹,Güran T.¹,Audi L.²,Bereket A.¹

Affiliation:

1. Division of Pediatric Endocrinology; Department of Pediatrics; Marmara University School of Medicine; İstanbul Turkey

2. Pediatric Endocrinology Research Unit; Vall d'Hebron Research Institute (VHIR); CIBERER (Centre for Biomedical Research Network on Rare Diseases); Instituto de Salud Carlos III; Autonomous University; Barcelona Spain

Publisher

Wiley

Subject

Urology,Endocrinology,Reproductive Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.2047-2927.2014.00215.x/fullpdf

Reference49 articles.

1. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome;Ahmed;J Clin Endocrinol Metab,2000

2. Apolipoprotein d (apod) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome;Appari;J Mol Med (Berl),2009

3. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46, XY disorder of sex development;Audi;J Clin Endocrinol Metab,2010

4. Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome;Batch;Hum Mol Genet,1992

5. Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis;Bhangoo;Asian J Androl,2010

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