Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation

Am J Med Genet A. 2004 Feb 15;125A(1):102-4. doi: 10.1002/ajmg.a.20484.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Base Sequence
  • Codon, Nonsense
  • Ear / abnormalities
  • Family Health
  • Female
  • Genetic Variation
  • Humans
  • Hypospadias / pathology
  • Infant
  • Kidney / abnormalities
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Syndrome
  • Toes / abnormalities
  • Transcription Factors / genetics*

Substances

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