Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

Background: Patients harboring NR5A1 mutations have a wide spectrum of phenotypes. Objective: To investigate the phenotype of patients with NR5A1 gene mutations from a 30 Chinese patient cohort. Methods: We reported the clinical features of children with NR5A1 gene mutations and compared them betwee...

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Detalles Bibliográficos
Autores principales: Song, Yanning, Fan, Lijun, Gong, Chunxiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218886/
https://www.ncbi.nlm.nih.gov/pubmed/30425642
http://dx.doi.org/10.3389/fphar.2018.01224

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218886/
https://www.ncbi.nlm.nih.gov/pubmed/30425642
http://dx.doi.org/10.3389/fphar.2018.01224

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