Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14

J Med Genet. 2003 Nov;40(11):849-53. doi: 10.1136/jmg.40.11.849.
No abstract available

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Capillaries / abnormalities
  • Child
  • Chromosome Mapping / methods*
  • Chromosomes, Human, Pair 5 / genetics*
  • Eye Abnormalities / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Genetic Linkage / genetics*
  • Genetic Markers / genetics*
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Port-Wine Stain* / genetics
  • Skin / blood supply*
  • Telangiectasis / genetics*

Substances

  • Genetic Markers

Associated data

  • OMIM/163000
  • OMIM/187260
  • OMIM/187300
  • OMIM/600736