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

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 Chinese s...

Full description

Saved in:
Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: Fan, Lijun, Song, Yanning, Polak, Michel, Li, Lele, Ren, Xiaoya, Zhang, Beibei, Wu, Di, Gong, Chunxiu
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2020
Subjects:
Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549558/
https://ncbi.nlm.nih.gov/pubmed/32713132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1431
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items