Article

Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related osteoporosis

2022-01-31

Abstract excerpt

<title>Abstract</title> <p>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 o...

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Literature Corpus work: 0c301675-24d7-5606-b9ae-2dd7f1362639
DOI: 10.21203/rs.3.rs-1277707/v1

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