Article
Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency.
Molecular medicine reports - 1 Nov 2022
Cheng Yiping, Xu Chao, Yang Jiangfei, Zhou Xinli, Chen Nan
Abstract excerpt
The 46, XY disorder of sex development (DSD) is the main cause of birth defects; however, as it is a group of highly heterogeneous diseases, >50% of cases are not accurately diagnosed. Identification of more cases will improve understanding of the relationship between genotype and phenotype for DSD. The present study conducted a systematic analysis of the clinical characteristics of a proband with 46, XY DSD,...
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