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

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 cor...

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Detalles Bibliográficos
Autores principales: Wu, Zhichong, Feng, Zhenhua, Zhu, Xiufen, Dai, Zhicheng, Min, Kaixing, Qiu, Yong, Yi, Long, Xu, Leilei, Zhu, Zezhang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9233774/
https://www.ncbi.nlm.nih.gov/pubmed/35752817
http://dx.doi.org/10.1186/s13023-022-02380-z

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