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Arthrogryposis syndrome
- ... Petajan JH, Momberger GL, Aase J, Wright DG. Arthrogryposis syndrome (Kuskokwim disease) in the Eskimo. JAMA. 1969 Sep ...
- ... genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3): ...
- ... genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. doi: 10.1086/368294. Citation on PubMed or Free article on PubMed Central
- ... genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. doi: 10.1086/368294. Citation on PubMed or Free article on PubMed Central ... A. Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin ...
- ... cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) ...
- ... the condition. Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy DA2A Distal arthrogryposis, type 2A FBS Freeman-Burian syndrome FSS Whistling face syndrome Whistling face-windmill vane ...
- ... syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. Am J Med Genet A. 2013 Aug;161A( ...
- ... facial features (different from those of Rubinstein-Taybi syndrome, described above), abnormal thumbs, and rigid joints (arthrogryposis). Some affected individuals also have abnormalities of the ...
- ... causes a condition called chromosome 16p13.3 duplication syndrome, which is characterized by intellectual disability, distinctive facial features, abnormal thumbs, and rigid joints (arthrogryposis). Some affected individuals also have abnormalities of the ...
- ... Alliance (UK) Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Program ... Syndrome Family Association Barth Syndrome Foundation Batten Disease Family ...