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ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
BACKGROUND: The NR5A1 gene encodes steroidogenic factor-1 (SF1), a key transcription factor involved in adrenal and gonadal development. We present a 12-year old boy with a novel, dominant, heterozygous, and probably pathogenic variant of this gene (c.102+1G>C) resulting in incomplete masculiniza...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625422/ http://dx.doi.org/10.1210/jendso/bvac150.1262 |