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