Clinical characteristics and genotype‐phenotype correlations of 130 Chinese children in a high‐homogeneity single‐center cohort with 5α‐reductase 2 deficiency

Clinical characteristics and genotype‐phenotype correlations of 130 Chinese children in a high‐homogeneity single‐center cohort with 5α‐reductase 2 deficiency

Abstract Background 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. Methods We investigated genotype‐phenotype correlations of SRD5A2 variants in a large Ch...

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Bibliographic Details
Main Authors: Lijun Fan, Yanning Song, Michel Polak, Lele Li, Xiaoya Ren, Beibei Zhang, Di Wu, Chunxiu Gong
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
disorders of sex development
genotype‐phenotype correlation
SRD5A2 gene
steroid 5α‐reductase type 2 deficiency
Online Access:https://doi.org/10.1002/mgg3.1431

Internet

https://doi.org/10.1002/mgg3.1431

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