Somatic mosaicism and variable expression of Townes-Brocks syndrome

Am J Med Genet. 2002 Aug 1;111(2):230-1. doi: 10.1002/ajmg.10485.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Anus, Imperforate / genetics
  • Developmental Disabilities / genetics
  • Ear, External / abnormalities
  • Eye Abnormalities / genetics
  • Heart Defects, Congenital / diagnosis
  • Humans
  • Infant, Newborn
  • Male
  • Mosaicism*
  • Phenotype
  • Polydactyly / genetics
  • Syndrome
  • Thumb / abnormalities