De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones

J Med Genet. 2003 Aug;40(8):e92. doi: 10.1136/jmg.40.8.e92.
No abstract available

Publication types

  • Case Reports
  • Multicenter Study

MeSH terms

  • Adult
  • Cerebellar Neoplasms / genetics*
  • Chromosomes, Human, Pair 10 / genetics*
  • Cranial Sutures / abnormalities*
  • Ganglioneuroma / genetics*
  • Germ-Line Mutation*
  • Humans
  • Infant, Newborn
  • Male
  • PTEN Phosphohydrolase
  • Pedigree
  • Phosphoric Monoester Hydrolases / genetics*
  • Polydactyly / genetics*
  • Tumor Suppressor Proteins / genetics*

Substances

  • Tumor Suppressor Proteins
  • Phosphoric Monoester Hydrolases
  • PTEN Phosphohydrolase
  • PTEN protein, human