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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Detalles Bibliográficos
Autores principales: Noveski, P, Plaseski, T, Dimitrovska, M, Plaseska-Karanfilska, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413879/
https://www.ncbi.nlm.nih.gov/pubmed/37576790
http://dx.doi.org/10.2478/bjmg-2023-0012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413879/
https://www.ncbi.nlm.nih.gov/pubmed/37576790
http://dx.doi.org/10.2478/bjmg-2023-0012

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