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49. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers HH. Cell; 1995 Feb 10; 80(3):431-7. PubMed ID: 7859284 [Abstract] [Full Text] [Related]
52. [Defective gene causing diastrophic dysplasia has been localized]. Kaitila I, Hästbacka J, de la Chapelle A, Sistonen P. Duodecim; 1991 Feb 10; 107(17):1418-9. PubMed ID: 1365369 [No Abstract] [Full Text] [Related]
55. Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. Bonaventure J, Chaminade F, Maroteaux P. Hum Genet; 1995 Jul 10; 96(1):58-64. PubMed ID: 7607655 [Abstract] [Full Text] [Related]
56. Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval. Fontaine B, Nicole S, Topaloglu H, Ben Hamida C, Beighton P, Spaans F, Cantu JM, Bakouri S, Romero N, Ricker K, Barros-Nunez P, Ponsot G, Ben Hamida M, Weissenbach J, Hentati F, Lehmann-Horn F. Hum Genet; 1996 Sep 10; 98(3):380-5. PubMed ID: 8707312 [Abstract] [Full Text] [Related]
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