A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation

Am J Med Genet A. 2009 Mar;149A(3):521-4. doi: 10.1002/ajmg.a.32647.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Case-Control Studies
  • Cell Line
  • China
  • Chromosomes, Human, Pair 1*
  • Disease Susceptibility
  • Exons
  • Family
  • Genes, Reporter
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Heterozygote
  • Humans
  • Lod Score
  • Luciferases / metabolism
  • Macrostomia / genetics*
  • Mutation*
  • Patched Receptors
  • Patched-2 Receptor
  • Pedigree
  • Receptors, Cell Surface / genetics*
  • Time Factors
  • Transfection

Substances

  • Genetic Markers
  • PTCH2 protein, human
  • Patched Receptors
  • Patched-2 Receptor
  • Receptors, Cell Surface
  • Luciferases