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

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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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