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Arthrogryposis
- ... TPM2 gene have been found to cause distal arthrogryposis type 1, a disorder characterized by joint deformities ( ... mutations lead to contractures in people with distal arthrogryposis type 1, or why the joint problems are ...
- ... MYBPC1 gene has been found to cause distal arthrogryposis type 1, a disorder characterized by joint deformities ( ... protein leads to contractures in people with distal arthrogryposis type 1, or why the joint problems are ...
- ... Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet ... of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. Clin Genet. 2006 Dec;70(6): ...
- ... Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet ... A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch ...
- ... syndrome, described above), abnormal thumbs, and rigid joints (arthrogryposis). Some affected individuals also have abnormalities of the ...
- ... syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys- ...
- ... Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet ...