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Abstract 24: NR5A1 mutation: A single centre experience from South India

Background: Inactivating mutations involving Nuclear receptor subfamily 5 group A member (NR5A1) or steroidogenic factor 1 (SF1), is increasingly being recognized as an important cause of 46XY DSD and rarely 46XX DSD. Myriad of presentations include undervirilized male with or without peripubertal v...

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Detalles Bibliográficos
Autores principales: Franklin, F Joel, Praveen, V P, Nisha, B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067811/
http://dx.doi.org/10.4103/2230-8210.342138