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■ Abbreviation / Long Form : DMC / Dyggve-Melchior-Clausen syndrome

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Total Number of Papers: 10
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Abbreviation:   DMC  (>> Co-occurring Abbreviation)
Long Form:   Dyggve-Melchior-Clausen syndrome
 Abbreviation Variation
 Long Form Variation
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No. Year Title Co-occurring Abbreviation
2014 A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome. DYM, ID
2013 A novel RAB33B mutation in Smith-McCort dysplasia. SMC
2012 Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. ---
2011 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. DYM
2006 Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. SEMDs, SMC
2005 Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. MR, SEMD
2005 Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder. ---
2003 Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. ---
2002 Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. ---
10  1997 Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest. ---