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

Abstract excerpt

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 2 groups of patients with social genders of male (boys group) and female (girls group). Results: Thirty patients...

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• Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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