Associated Papers
[Clinical characteristics and genetic analysis of a case with 47,XYY Disorder of sex development due to variant of NR5A1 gene].
Liu Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.
Xu Y et al.
Orphanet Journal of Rare Diseases, 2024
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.
Hattori A et al.
Biomolecules, 2023
Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants.
Zhu H et al.
Orphanet Journal of Rare Diseases, 2021
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
Wang H et al.
Human Genetics, 2018
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