Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome

J Med Genet. 2000 Apr;37(4):303-7. doi: 10.1136/jmg.37.4.303.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Adult
  • Anus, Imperforate / etiology
  • Anus, Imperforate / genetics
  • DNA Mutational Analysis
  • Female
  • Hearing Loss, Sensorineural / etiology
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense
  • Pedigree
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • SALL1 protein, human
  • Transcription Factors

Associated data

  • GENBANK/X98833
  • GENBANK/Y18264
  • GENBANK/Y18265