1 | CANT1, DSBQS
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| A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.
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| Singh A, Kim OH, Iida A, Park WY, Ikegawa S, Kapoor S.
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| Eur J Med Genet 58(2):105-10. doi: 10.1016/j.ejmg.2014.11.006. Epub 2014 Dec 5.
2015
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2 | CANT1, DSBQS
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| Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.
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| Inoue S, Ishii A, Shirotani G, Tsutsumi M, Ohta E, Nakamura M, Mori T, Inoue T, Nishimura G, Ogawa A, Hirose S.
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| Pediatr Int 56(4):e26-9. doi: 10.1111/ped.12383.
2014
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3 | CANT1, DSBQS
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| Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
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| Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, Mackay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V.
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| Hum Mutat 33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22.
2012
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4 | CANT1, DSBQS
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| CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
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| Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim OH, Nishimura G, Ikegawa S.
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| J Med Genet 48(1):32-7. Epub 2010 Oct 30.
2011
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5 | CANT1, DSBQS
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| A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
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| Dai J, Kim OH, Cho TJ, Miyake N, Song HR, Karasugi T, Sakazume S, Ikema M, Matsui Y, Nagai T, Matsumoto N, Ohashi H, Kamatani N, Nishimura G, Furuichi T, Takahashi A, Ikegawa S.
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| J Hum Genet 56(5):398-400. Epub 2011 Mar 17.
2011
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6 | CANT1, DSBQS
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| Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
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| Laccone F, Schoner K, Krabichler B, Kluge B, Schwerdtfeger R, Schulze B, Zschocke J, Rehder H.
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| Eur J Hum Genet 19(11):1133-7. doi: 10.1038/ejhg.2011.101. Epub 2011 Jun 8.
2011
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7 | CANT1, DSBQS
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| Mutation of CANT1 causes Desbuquois dysplasia.
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| Faden M, Al-Zahrani F, Arafah D, Alkuraya FS.
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| Am J Med Genet A 152A(5):1157-60.PMID: 20425819 2010
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8 | CANT1, DSBQS
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| Identification of CANT1 mutations in Desbuquois dysplasia.
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| Huber C, Oulès B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Bréchot P, Munnich A, Cormier-Daire V.
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| Am J Hum Genet 85(5):706-10. Epub 2009 Oct 22.PMID: 19853239 2009
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9 | NPS1, PTLAH, DSBQS, LRS1, EDM2, EDM4
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| Human syndromes with congenital patellar anomalies and the underlying gene defects.
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| Bongers EM, van Kampen A, van Bokhoven H, Knoers NV.
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| Clin Genet 68(4):302-19. 2005
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10 | DSBQS
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| Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
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| Faivre L, Le Merrer M, Al-Gazali LI, Ausems MG, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V.
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| J Med Genet 40(4):282-4. 2003
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11 | DSBQS
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| Desbuquois syndrome: three further cases and review of the literature.
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| Gillessen-Kaesbach G, Meinecke P, Ausems MG, Nothen M, Albrecht B, Beemer FA, Zerres K.
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| Clin Dysmorphol 4(2):136-44. Review. 1995
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