Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome

Clin Genet. 2010 Mar;77(3):298-301. doi: 10.1111/j.1399-0004.2009.01348.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Esophageal Achalasia / genetics*
  • Esophageal Achalasia / pathology
  • Female
  • Humans
  • Male
  • Nerve Tissue Proteins / genetics*
  • Nuclear Pore Complex Proteins / genetics*

Substances

  • AAAS protein, human
  • Nerve Tissue Proteins
  • Nuclear Pore Complex Proteins