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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

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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Detalles Bibliográficos
Autores principales:	Fan, Lijun, Song, Yanning, Polak, Michel, Li, Lele, Ren, Xiaoya, Zhang, Beibei, Wu, Di, Gong, Chunxiu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549558/ https://www.ncbi.nlm.nih.gov/pubmed/32713132 http://dx.doi.org/10.1002/mgg3.1431

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