New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Baoheng GuiYanning SongZhe SuFei-Hong LuoLinqi ChenXiumin WangRuimin ChenYu YangJin WangXiu ZhaoLijun FanXia LiuYi WangShaoke ChenChun-Xiu GongPublished in: Journal of medical genetics (2019)
This study profiled variable phenotypic presentation and wide mutational spectrum of SRD5A2, revealing its distinctive regional distribution in Chinese patients and further shaping the founder effect and genotype-phenotype correlation of SRD5A2.
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