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Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-26 , DOI: 10.1002/mgg3.1431
Lijun Fan 1, 2 , Yanning Song 1, 2 , Michel Polak 3 , Lele Li 1, 2 , Xiaoya Ren 1, 2 , Beibei Zhang 1, 2 , Di Wu 1, 2 , Chunxiu Gong 1, 2
Affiliation  

Patients with steroid 5α‐reductase 2 deficiency (5α‐RD) caused by SRD5A2 (OMIM #607306) variants present variable genotypes and phenotypes. The genotype‐phenotype correlations remain unclear.
更新日期:2020-07-26
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