Article
Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related childhood-onset osteoporosis.
Orphanet journal of rare diseases - 25 Jun 2022
Wu Zhichong, Feng Zhenhua, Zhu Xiufen, Dai Zhicheng, Min Kaixing, Qiu Yong, Yi Long, Xu Leilei, Zhu Zezhang
Abstract excerpt
BACKGROUND: X-linked early-onset osteoporosis, caused by mutations in plastin3 (PLS3), is an extremely rare disease characterized by low bone mineral density (BMD) and recurrent osteoporotic fractures. There is limited information on genetic and phenotypic spectrum, as well as genotype-phenotype correlations of the disease. Moreover, whether decreased PLS3 levels were also involved in osteoporosis among subjects...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.