Variants in 46,XY DSD-related genes in syndromic and non-syndromic small for gestational age children with hypospadias
收藏NIAID Data Ecosystem2026-03-11 收录
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https://www.ncbi.nlm.nih.gov/bioproject/PRJNA646698
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资源简介：
From a cohort of 46,XY DSD patients, we identified 45 SGA children with medium or proximal hypospadias, five of them with associated syndromic characteristics. DNA samples from subjects were studied by massively parallel targeted sequencing. Novel pathogenic variants in CUL7 and TRIM37 genes were identified as a cause of 3M syndrome and Mulibrey nanism, respectively.
创建时间：
2020-07-16
