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

Am J Med Genet A. 2005 Sep 15;138(1):75-8. doi: 10.1002/ajmg.a.30912.
No abstract available

Publication types

  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Argentina
  • Chile
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Growth Disorders / pathology
  • Guam
  • Haplotypes
  • Humans
  • Intellectual Disability / pathology
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Mutation*
  • Osteochondrodysplasias / pathology*
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Proteins / genetics*
  • Spain
  • Syndrome

Substances

  • DYM protein, human
  • Intracellular Signaling Peptides and Proteins
  • Proteins

Associated data

  • OMIM/223800