The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations

Br J Dermatol. 2011 Apr;164(4):878-80. doi: 10.1111/j.1365-2133.2010.10157.x. Epub 2011 Mar 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acanthosis Nigricans / etiology
  • Alopecia / etiology
  • Alstrom Syndrome / genetics*
  • Alstrom Syndrome / pathology*
  • Blindness / etiology
  • Blindness / genetics*
  • Cell Cycle Proteins
  • Child
  • DNA Mutational Analysis
  • Female
  • Hirsutism / etiology
  • Humans
  • Mutation*
  • Phenotype
  • Proteins / genetics*

Substances

  • ALMS1 protein, human
  • Cell Cycle Proteins
  • Proteins