Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

Clin Genet. 2004 Feb;65(2):156-7. doi: 10.1111/j.0009-9163.2004.00204.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cell Cycle Proteins
  • Child, Preschool
  • Codon, Nonsense*
  • Humans
  • Male
  • Phenotype
  • Proteins / genetics*
  • Siblings
  • Syndrome

Substances

  • ALMS1 protein, human
  • Cell Cycle Proteins
  • Codon, Nonsense
  • Proteins