Article
The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome.
International journal of molecular sciences - 9 Nov 2020
Ilaslan Erkut, Markosyan Renata, Sproll Patrick, Stevenson Brian J, Sajek Malgorzata, Sajek Marcin P, Hayrapetyan Hasmik, Sarkisian Tamara, Livshits Ludmila, Nef Serge, Jaruzelska Jadwiga, Kusz-Zamelczyk Kamila
Abstract excerpt
Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the diagnosis. Here, we describe a patient suffering from partial androgen insensitivity syndrome (PAIS) and lacking AR...
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