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of 2
pro vyhledávání: '"M G, Obregón"'
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003). 76(6)
Tarsal-carpal coalition syndrome (TCC, OMIM #186570) is an autosomal dominant disorder characterised by fusion of the carpals, tarsals, and phalanges, with the short first metacarpals causing brachydactyly and humeroradial fusion. Mutations in the NO
Autor:
V, Fano, M, Rodríguez Celin, M, Del Pino, S, Buceta, M G, Obregón, C, Primomo, H, García, H, Miscione, H, Lejarraga
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003). 72(5)
Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive or mixed hearing loss. Clinical variability is wide. Al