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New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development

5 Jul 2019

Abstract excerpt

CONTEXT: Diagnosis of non-chromosomal type disorders of sex development (DSD) has long been challenging. There is still no research on overview of a large Chinese DSD cohort. OBJECTIVE: To determine the etiologic diagnosis through unbiased large-scale panel sequencing and whole-exome sequencing (WES) within a large Chinese DSD cohort. DESIGN: Patients were recruited according to the inclusion criteria of DSD. The...

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PMID: 31277073
DOI: 10.1530/eje-19-0111

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