OMIM/108120[Secondary Source ID] - Search Results

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A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.

Jiang M, Zhao X, Han W, Bian C, Li X, Wang G, Ao Y, Li Y, Yi D, Zhe Y, Lo WH, Zhang X, Li J. Jiang M, et al. Hum Genet. 2006 Sep;120(2):238-42. doi: 10.1007/s00439-006-0183-4. Epub 2006 Jun 27. Hum Genet. 2006. PMID: 16802141

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Sung SS, et al. Am J Hum Genet. 2003 Mar;72(3):681-90. doi: 10.1086/368294. Am J Hum Genet. 2003. PMID: 12592607 Free PMC article.

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