Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father

SUMMARY: Pathogenic variants in the nuclear receptor subfamily 5 group A member 1 gene (NR5A1), which encodes steroidogenic factor 1 (SF1), result in 46,XY and 46,XX differences of sex development (DSD). In 46,XY individuals with a pathogenic variant in the NR5A1 gene a variable phenotype ranging fr...

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Detalles Bibliográficos
Autores principales: Damji, Rahim Karim, Alimohamed, Mohamed Zahir, Claahsen-van der Grinten, Hedi L, Westra, Dineke, Hamel, Ben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2023
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241235/
https://www.ncbi.nlm.nih.gov/pubmed/37185284
http://dx.doi.org/10.1530/EDM-22-0384

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