New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype–phenotype profiling of <i>SRD5A2</i> in 190 Chinese patients

Abstract

This study profiled variable phenotypic presentation and wide mutational spectrum of <i>SRD5A2,</i> revealing its distinctive regional distribution in Chinese patients and further shaping the founder effect and genotype-phenotype correlation of <i>SRD5A2</i>.