Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome

Clin Genet. 2013 Jan;83(1):96-8. doi: 10.1111/j.1399-0004.2012.01883.x. Epub 2012 Apr 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Alstrom Syndrome / diagnosis
  • Alstrom Syndrome / genetics*
  • Alstrom Syndrome / physiopathology
  • Cell Cycle Proteins
  • Echocardiography
  • Humans
  • Male
  • Mutation
  • Pathology, Molecular*
  • Proteins / genetics*

Substances

  • ALMS1 protein, human
  • Cell Cycle Proteins
  • Proteins