SEMA3E mutation in a patient with CHARGE syndrome

J Med Genet. 2004 Jul;41(7):e94. doi: 10.1136/jmg.2003.017640.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Choanal Atresia / genetics*
  • Chromosome Breakage / genetics
  • Chromosome Mapping / methods
  • Chromosomes, Human, Pair 2 / genetics
  • Chromosomes, Human, Pair 7 / genetics
  • Coloboma / genetics*
  • Deafness / genetics*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Male
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Semaphorins / genetics*
  • Syndrome
  • Translocation, Genetic / genetics

Substances

  • SEMA3E protein, human
  • Semaphorins