Associated Papers
Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.
Chen H et al.
Biology of Sex Differences, 2024
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Hughes LA et al.
Endocrine Connections, 2019
Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development.
Nixon R et al.
Human Reproduction (oxford, England), 2017
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2016
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