Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

Mutations in the X-linked androgen receptor (AR) gene underlie complete androgen insensitivity syndrome (CAIS), the most common cause of 46,XY sex reversal. Molecular genetic diagnosis of CAIS, however, remains uncertain in patients who show normal coding region of AR. Here, we describe a novel mech...

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Bibliographic Details
Published in:Sci Rep
Main Authors: Känsäkoski, Johanna, Jääskeläinen, Jarmo, Jääskeläinen, Tiina, Tommiska, Johanna, Saarinen, Lilli, Lehtonen, Rainer, Hautaniemi, Sampsa, Frilander, Mikko J., Palvimo, Jorma J., Toppari, Jorma, Raivio, Taneli
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5016895/
https://ncbi.nlm.nih.gov/pubmed/27609317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep32819
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