Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease

J Med Genet. 2005 Mar;42(3):e18. doi: 10.1136/jmg.2004.028746.
No abstract available

Publication types

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

MeSH terms

  • Alleles*
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods
  • Haplotypes
  • Hirschsprung Disease / genetics*
  • Homozygote*
  • Humans
  • Linkage Disequilibrium
  • Male
  • Penetrance
  • Polymorphism, Single Nucleotide
  • Proto-Oncogene Proteins c-ret / genetics*

Substances

  • Proto-Oncogene Proteins c-ret
  • RET protein, human