Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient

Am J Med Genet A. 2006 Mar 15;140(6):649-51. doi: 10.1002/ajmg.a.31136.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Anal Canal / abnormalities
  • Chromosomes, Human, Pair 8 / genetics*
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Foot Deformities, Congenital / pathology
  • Hand Deformities, Congenital / pathology
  • Humans
  • Karyotyping
  • Male
  • Mosaicism*
  • Mutation*
  • Pedigree
  • Syndrome
  • Transcription Factors / genetics*
  • Trisomy*

Substances

  • Codon, Nonsense
  • SALL1 protein, human
  • Transcription Factors