Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes

Clin Genet. 2005 Dec;68(6):558-60. doi: 10.1111/j.1399-0004.2005.00531.x.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • DNA Mutational Analysis
  • DNA Primers
  • Ectromelia / genetics*
  • Ectromelia / pathology
  • Fibroblast Growth Factor 10 / genetics
  • Genetic Predisposition to Disease*
  • Humans
  • Lung / abnormalities*
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics
  • Sequence Analysis, DNA
  • Sulfotransferases / genetics
  • Syndrome
  • Wnt Proteins / genetics
  • Wnt3 Protein

Substances

  • DNA Primers
  • FGF10 protein, human
  • Fibroblast Growth Factor 10
  • Wnt Proteins
  • Wnt3 Protein
  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2
  • Sulfotransferases
  • heparan sulfate 6-O-sulfotransferase