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Distal arthrogryposis
- Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" ...
- Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes ...
- ... of the condition. Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy DA2A Distal arthrogryposis, type 2A FBS Freeman-Burian syndrome FSS Whistling ...
- ... the TPM2 gene have been found to cause distal arthrogryposis type 1, a disorder characterized by joint deformities ( ... these mutations lead to contractures in people with distal arthrogryposis type 1, or why the joint problems are ...
- ... the MYBPC1 gene has been found to cause distal arthrogryposis type 1, a disorder characterized by joint deformities ( ... defective protein leads to contractures in people with distal arthrogryposis type 1, or why the joint problems are ...
- ... M, Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet ... Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. Clin Genet. 2006 Dec;70(6): ...
- ... M, Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet ... Oldfors A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch ...
- ... a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys- ...
- ... M, Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet ...
- ... traits to their sons. AMCX1 Arthrogryposis multiplex congenita, distal, X-linked Arthrogryposis, X-lined, type I Distal X-linked AMC Infantile X-linked SMA SMAX2 ...