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A distinct osteochondrodysplasia with hypertrichosis-Individualization of a probable autosomal recessive entity
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Dominant missense mutations in ABCC9 cause Cantú syndrome
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Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. 2012. Dominant missense mutations in ABCC9 cause Cantú syndrome. Nat Genet 44:793-796.
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Copy number variations on chromosome 4q 26-27 are associated with Cantú syndrome
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Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly)
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Lazalde B, Sanchez-Urbina R, Nuno-Arana I, Bitar WE, Ramirez-Duenas M. 2000. Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). Am J Med Genet 94:412-427.
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A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantú syndrome
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Tan TY, Bankier A, Slater HR, Northrop EL, Zacharin M, Savarirayan R. 2005. A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantú syndrome. Am J Med Genet Part A 139A:216-220.
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84862128171
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Cantú syndrome is caused by mutations in ABCC9
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van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A. 2012. Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet 90:1094-1101.
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van Bon, B.W.1
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de Vries, B.B.20
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