Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

NR5A1/SF-1 (Steroidogenic factor-1) variants may cause mild to severe differences of sex development (DSD) or may be found in healthy carriers. The NR5A1/SF-1 c.437G>C/p.Gly146Ala variant is common in individuals with a DSD and has been suggested to act as a susceptibility factor for adrenal dise...

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Detalles Bibliográficos
Autores principales: Martinez de Lapiscina, Idoia, Kouri, Chrysanthi, Aurrekoetxea, Josu, Sanchez, Mirian, Naamneh Elzenaty, Rawda, Sauter, Kay-Sara, Camats, Núria, Grau, Gema, Rica, Itxaso, Rodriguez, Amaia, Vela, Amaia, Cortazar, Alicia, Alonso-Cerezo, Maria Concepción, Bahillo, Pilar, Bertholt, Laura, Esteva, Isabel, Castaño, Luis, Flück, Christa E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10335684/
https://www.ncbi.nlm.nih.gov/pubmed/37432935
http://dx.doi.org/10.1371/journal.pone.0287515

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