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 between...

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Bibliographic Details
Main Authors: Yanning Song, Lijun Fan, Chunxiu Gong
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-10-01
Series:Frontiers in Pharmacology
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fphar.2018.01224/full