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1: Title: Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.
Authors: Diao, Hongyan, et.al. .
Journal: Medicine (Medicine (baltimore)), Vol. 97 (46): e13117, 2018 .
Snippet: Variations in several important genes, including SEC22B, FLG, ZNF717, MUC4, TRIL, CTAGE4, FOXG1, LOC100287399, KRTAP1-3, and LRRC37A3, were surveyed by alignment analysis.The results present new evidence that mutations in 11 genes may be associated with characteristic clinical growth retardation, intellectual disability, joint contracture, and hepatopathy.
Affiliation: State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou. Central Lab of Shenzhen Pingshan People's Hospital, Shenzhen, PR China. Clinical Medical Research Center, Shenzhen People's Hospital, The Second Clinical Medical College of Jinan University, Guangdong. .
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