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Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, Hamida CB, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F, Weissenbach J, Hentati F, Fontaine B. Nicole S, et al. Among authors: beighton p. Nat Genet. 2000 Dec;26(4):480-3. doi: 10.1038/82638. Nat Genet. 2000. PMID: 11101850
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. Fontaine B, et al. Among authors: beighton p. Hum Genet. 1996 Sep;98(3):380-5. doi: 10.1007/s004390050225. Hum Genet. 1996. PMID: 8707312
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.
Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Reichenberger E, et al. Among authors: beighton p. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11326338 Free PMC article.
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.
Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J. Brunkow ME, et al. Among authors: beighton p. Am J Hum Genet. 2001 Mar;68(3):577-89. doi: 10.1086/318811. Epub 2001 Feb 9. Am J Hum Genet. 2001. PMID: 11179006 Free PMC article.
399 results