Clinical utility gene card for: Alström syndrome

Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.72. Epub 2011 Apr 27.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alstrom Syndrome / diagnosis*
  • Alstrom Syndrome / genetics*
  • Alstrom Syndrome / physiopathology
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics
  • Cell Cycle Proteins
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Genetic Testing / methods
  • Genotype
  • Humans
  • Infant
  • Male
  • Mutation*
  • Phenotype
  • Proteins / genetics*
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics
  • Sensitivity and Specificity

Substances

  • ALMS1 protein, human
  • Cell Cycle Proteins
  • Proteins