International nomenclature and classification of the osteochondrodysplasias (1997)
暂无分享,去创建一个
D. Sillence | I. Kaitila | D. Rimoin | M. Warman | A. Superti-Furga | D. Cohn | C. Francomano | M. Merrer | W. Horton | R. Lachman | A. Giedion | J. Spranger | C. Hall | JudithG. Hall | W. Wilcox | Andrew K. Posnanski
[1] S. Jimenez,et al. Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings. , 1994, Arthritis and rheumatism.
[2] W. Reardon,et al. Mesomelic limb shortness: a previously unreported autosomal recessive type. , 1993, American journal of medical genetics.
[3] G. Nishimura,et al. Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis. , 1991, American journal of medical genetics.
[4] P. Beighton,et al. Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. , 1990, American journal of medical genetics.
[5] P. Beighton,et al. Namaqualand hip dysplasia: an autosomal dominant entity. , 1984, American journal of medical genetics.
[6] W. Murphy,et al. Axial osteomalacia: Clinical, laboratory and genetic investigation of an affected mother and son , 1981 .
[7] R. Astley,et al. A bone dysplasia for diagnosis. , 1980, Annales de radiologie.