Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome

Am J Med Genet. 1999 Jan 1;82(1):100. doi: 10.1002/(sici)1096-8628(19990101)82:1<100::aid-ajmg23>3.0.co;2-f.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Angelman Syndrome / diagnosis*
  • Angelman Syndrome / genetics
  • Chromosome Inversion
  • Chromosomes, Human, Pair 15*
  • Diagnosis, Differential
  • Female
  • Gene Duplication
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Osteochondrodysplasias / genetics
  • Syndrome