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Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole‐Exome Sequencing

OBJECTIVE: To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME). METHODS: The study recruited seven families diagno...

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Bibliografske podrobnosti
izdano v:Orthop Surg
Main Authors: Liang, Chao, Wang, Yong‐jie, Wei, Yu‐xuan, Dong, Yang, Zhang, Zhi‐chang
Format: Artigo
Jezik:Inglês
Izdano: John Wiley & Sons Australia, Ltd 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7307237/
https://ncbi.nlm.nih.gov/pubmed/32293802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/os.12660
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