Distal arthrogryposis
Definition:
References:
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[1]. Christina A Gurnett, et al. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet. 2010 Apr 1;19(7):1165-73. [Content Brief]
[2]. D A Stevenson, et al. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. Am J Med Genet A. 2006 Dec 15;140(24):2797-801. [Content Brief]
[3]. E A Putnam, et al. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet. 1995 Dec;11(4):456-8. [Content Brief]
[4]. Jessica X Chong, et al. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Am J Hum Genet. 2020 Aug 6;107(2):293-310. [Content Brief]
[5]. Margaret J McMillin, et al. Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet. 2013 Jan 10;92(1):150-6. [Content Brief]
[6]. Margaret J McMillin, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet. 2014 May 1;94(5):734-44. [Content Brief]
[7]. Reha M Toydemir, et al. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. [Content Brief]
[8]. Sandy S Sung, et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. [Content Brief]
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