Citations for
1DMC, DYM, GOLM1, PPIB
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.
Denais C, Dent CL, Southgate L, Hoyle J, Dafou D, Trembath RC, Machado RD.
Hum Mutat 32(2):231-9. doi: 10.1002/humu.21413. 2011
2DMC, DYM
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
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.
Hum Mol Genet 18(3):440-53. Epub 2008 Nov 7. 2009
3DMC, DYM, SCMD
Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.
Osipovich AB, Jennings JL, Lin Q, Link AJ, Ruley HE.
Proc Natl Acad Sci U S A 105(42):16171-6. Epub 2008 Oct 13. 2008
4DYM, DMC
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
Neumann LM, Ghouzzi VE, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V.
Am J Med Genet A 140(5):421-6. 2006
5DYM, DMC
Recent advances in Dyggve-Melchior-Clausen syndrome.
Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V.
Mol Genet Metab 83(1-2):51-9. 2004
6DYM, DMC
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene
Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL.
Am J Hum Genet 72(2):419-28. 2003
7DYM
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome
El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V.
Hum Mol Genet 12(3):357-64. 2003
8DYM
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Megarbane A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V.
J Med Genet 39(10):714-7. 2002
9DYM, SMCD, DMC
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH.
Am J Hum Genet 71(4):947-51. 2002