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Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.

Journal of endocrinological investigation - 1 Aug 2023

Zheng G Y, Chu G M, Li P P, He R

Abstract excerpt

PURPOSE: 46,XY disorders of sex development (DSD) is the most complicated and common type of DSD. To date, more than 30 genes have been identified associated with 46,XY DSD. However, the mutation spectrum of 46,XY DSD is incomplete owing to the high genetic and clinical heterogeneity. This study aims to provide clinical and mutational characteristics of 18 Chinese patients with 46,XY DSD. METHODS: A total of 20...

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3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Disorder of Sex Development, 46,XY
Disorders of Sex Development
East Asian People
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sexual Development

Steroidogenic Factor 1

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PMID: 36745277
DOI: 10.1007/s40618-023-02020-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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