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SUN-LB041 Clinical and Molecular Characteristics, Genotype-Phenotype Correlation in 113 Chinese Children with SRD5A2 Gene Mutations

Abstract Objective: Studies on 5α-reductase type 2 deficiency (5α-RD) are limited and the genotype-phenotype correlation has not been elucidated. The aim of the study was to analyze clinical and molecular characteristics, genotype-phenotype correlation in a large Chinese 5α-RD cohort. Design: Databa...

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Detalles Bibliográficos
Publicado en:J Endocr Soc
Main Authors: Fan, Lijun, Gong, Chunxiu
Formato: Artigo
Idioma:Inglês
Publicado: Endocrine Society 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553243/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-LB041
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