Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series

RATIONALE: Hereditary multiple exostoses (HMEs) is an autosomal dominant skeletal disorder. PATIENT CONCERNS: Six probands of the 6 unrelated Han Chinese families were identified as having HME. These patients had exostoses at multiple sites and significantly affected joints malformation and movement...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Medicine (Baltimore)
Prif Awduron: Long, Xigui, Li, Zhuo, Huang, Yanru, Zhang, Li, Lv, Weigang, Teng, Yanling, Linpeng, Siyuan, Liang, Desheng, Wu, Lingqian
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Wolters Kluwer Health 2019
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6531242/
https://ncbi.nlm.nih.gov/pubmed/31096510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000015692
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