Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance

ConclusionsWe identified a novel heterozygous mutation in thePTH1R gene leading to clinical manifestations with incomplete penetrance that expands the spectrum of knownPTH1R mutations.

Source: Molecular Genetics & Genomic Medicine - October 16, 2023 Category: Genetics & Stem Cells Authors: Jie Wang, Chaoyue Zhao, Xin Zhang, Li Yang, Yanyan Hu Tags: ORIGINAL ARTICLE Source Type: research