MET mutation causes muscular dysplasia and arthrogryposis

Arthrogryposis is a group of phenotypically and genetically heterogeneous disorders characterized by congenital contractures of two or more parts of the body; the pathogenesis and the causative genes of arthrogryposis remain undetermined. We examined a four‐generation arthrogryposis pedigree charact...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:EMBO Mol Med
Prif Awduron: Zhou, Hang, Lian, Chengjie, Wang, Tingting, Yang, Xiaoming, Xu, Caixia, Su, Deying, Zheng, Shuhui, Huang, Xiangyu, Liao, Zhiheng, Zhou, Taifeng, Qiu, Xianjian, Chen, Yuyu, Gao, Bo, Li, Yongyong, Wang, Xudong, You, Guoling, Fu, Qihua, Gurnett, Christina, Huang, Dongsheng, Su, Peiqiang
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6404111/
https://ncbi.nlm.nih.gov/pubmed/30777867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201809709
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