Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole‐exome sequencing

BACKGROUND: Hereditary multiple exostoses (HME), also referred to as multiple osteochondromas, is an autosomal dominant skeletal disease characterized by the development of multiple overgrown benign bony tumors capped by cartilage and is associated with bone deformity, joint limitation, and short st...

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Detalles Bibliográficos
Autores principales: Yang, Mei, Xie, Hanbing, Xu, Bocheng, Xiang, Qinqin, Wang, He, Hu, Ting, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8418499/
https://www.ncbi.nlm.nih.gov/pubmed/34403521
http://dx.doi.org/10.1002/jcla.23968

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8418499/
https://www.ncbi.nlm.nih.gov/pubmed/34403521
http://dx.doi.org/10.1002/jcla.23968

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