| 1 | DMC, DYM, GOLM1, PPIB
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| Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.
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| Denais C, Dent CL, Southgate L, Hoyle J, Dafou D, Trembath RC, Machado RD.
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| Hum Mutat 32(2):231-9. doi: 10.1002/humu.21413. 2011
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| 2 | DMC, DYM
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| The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
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| Dimitrov A, Paupe V, Gueudry C, Sibarita JB, Raposo G, Vielemeyer O, Gilbert T, Csaba Z, Attie-Bitach T, Cormier-Daire V, Gressens P, Rustin P, Perez F, El Ghouzzi V.
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| Hum Mol Genet 18(3):440-53. Epub 2008 Nov 7.
2009
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| 3 | DMC, DYM, SCMD
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| Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.
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| Osipovich AB, Jennings JL, Lin Q, Link AJ, Ruley HE.
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| Proc Natl Acad Sci U S A 105(42):16171-6. Epub 2008 Oct 13. 2008
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| 4 | DYM, DMC
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| Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
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| Neumann LM, Ghouzzi VE, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V.
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| Am J Med Genet A 140(5):421-6. 2006
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| 5 | DMC
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| Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.
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| Pogue R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, de Casella CB, de Pons SP, Martinez-Frias ML, Heuertz S, Cormier-Daire V, Cohn DH.
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| Am J Med Genet A 138(1):75-8. No abstract available. 2005
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| 6 | DYM, DMC
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| Recent advances in Dyggve-Melchior-Clausen syndrome.
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| Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V.
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| Mol Genet Metab 83(1-2):51-9. 2004
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| 7 | DYM, DMC
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| Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene
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| Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL.
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| Am J Hum Genet 72(2):419-28. 2003
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| 8 | DYM, SMCD, DMC
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| Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
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| Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH.
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| Am J Hum Genet 71(4):947-51. 2002
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