Article
Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.
Molecular genetics & genomic medicine - 1 Jan 2024
Wang Jie, Zhao Chaoyue, Zhang Xin, Yang Li, Hu Yanyan
Abstract excerpt
BACKGROUND: Mutations in PTH1R are associated with Jansen-type metaphyseal chondrodysplasia (JMC), Blomstrand osteochondrodysplasia (BOCD), Eiken syndrome, enchondroma, and primary failure of tooth eruption (PFE). Inheritance of the PTH1R gene can be either autosomal dominant or autosomal recessive, indicating the complexity of the gene. Our objective was to identify the phenotypic differences in members of a...
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