High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case

J Med Genet. 2003 Nov;40(11):e127. doi: 10.1136/jmg.40.11.e127.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Anal Canal / abnormalities*
  • Arginine / genetics*
  • Child
  • Child, Preschool
  • Ear / abnormalities*
  • Female
  • Humans
  • Incidence
  • Infant, Newborn
  • Kidney / abnormalities*
  • Limb Deformities, Congenital / epidemiology
  • Limb Deformities, Congenital / genetics*
  • Male
  • Mutation, Missense / genetics*
  • Nuclear Family
  • Transcription Factors / genetics*

Substances

  • SALL1 protein, human
  • Transcription Factors
  • Arginine

Associated data

  • OMIM/104780