Androgen Insensitivity Syndrome DUE to Non-Coding Variation in the Androgen Receptor Gene: Review of the Literature and Case Report of a Patient with Mosaic c.-547C>T Variant

Androgen Insensitivity Syndrome DUE to Non-Coding Variation in the Androgen Receptor Gene: Review of the Literature and Case Report of a Patient with Mosaic c.-547C>T Variant

Sexual development (SD) is a complex process with strict spatiotemporal regulation of gene expression. Despite advancements in molecular diagnostics, disorders of sexual development (DSD) have a diagnostic rate of ~50%. Androgen insensitivity syndrome (AIS) represents the most common form of 46,XY D...

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Bibliographic Details
Main Authors: Noveski P, Plaseski T, Dimitrovska M, Plaseska-Karanfilska D
Format: Article
Language:English
Published: Sciendo 2023-07-01
Series:Balkan Journal of Medical Genetics
Subjects:
androgen insensitivity syndrome (ais)
5′utr variant
upstream open reading frames (uorfs)
non-coding variation
mosaicism
Online Access:https://doi.org/10.2478/bjmg-2023-0012

Internet

https://doi.org/10.2478/bjmg-2023-0012

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