Associated Papers
Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation.
Snipes M et al.
Case Reports in Genetics, 2024
Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.
Zheng GY et al.
Journal of Endocrinological Investigation, 2023
Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father.
Damji RK et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2023
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.
Kim JH et al.
Molecular and Cellular Endocrinology, 2017
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