Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family

BACKGROUND: Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage‐covered tumors on the external surfaces of bones (osteochondromas). Most of HME cases result from heterozygous loss‐of‐function mutations in EXT1 or EXT2...

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Detalles Bibliográficos
Autores principales: Li, Jianwei, Wang, Zhiqiang, Han, Yaxin, Jin, Chengfang, Cheng, Dalin, Zhou, Yong‐An, Zhen, Junping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922959/
https://www.ncbi.nlm.nih.gov/pubmed/35106951
http://dx.doi.org/10.1002/mgg3.1878

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