| 1 | HSPG2, SJS1
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| Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
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| Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S.
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| Hum Mutat 27(11):1082-91. 2006
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| 2 | DDSH, HSPG2, SJS1
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| Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
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| Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y.
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| Am J Hum Genet 70(5):1368-75. 2002
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| 3 | DDSH, HSPG2, SJS1
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| Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.
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| Arikawa-Hirasawa E, Wilcox WR, Le AH, Silverman N, Govindraj P, Hassell JR, Yamada Y.
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| Nat Genet 27(4):431-4. 2001
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| 4 | DDSH, HSPG2, SJS1
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| Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
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| 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.
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| Nat Genet 26(4):480-3. 2000
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| 5 | SJS1
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| 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.
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| Fontaine B, et al.
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| Hum Genet 98 380-385. 1996
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| 6 | SJS1
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| Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping.
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| Nicole S, et al.
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| Hum Mol Genet 4 : 1633-1636. 1995
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