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Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study

26 Jul 2023

Abstract excerpt

Diagnosis and management strategy of disorders of sex development (DSD) are difficult and various due to heterogeneous phenotype and genotype. Under widespread use of genomic sequencing technologies, multiple genes and mechanisms have been identified and proposed as genetic causes of 46,XY DSD. In this study, 178 46,XY DSD patients were enrolled and underwent gene sequencing (either whole-exome sequencing or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37493574
DOI: 10.1530/ec-23-0029

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