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...

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Publicat a:Mol Genet Genomic Med
Autors principals: Fan, Lijun, Song, Yanning, Polak, Michel, Li, Lele, Ren, Xiaoya, Zhang, Beibei, Wu, Di, Gong, Chunxiu
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
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Original Articles
Accés en línia: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
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