Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals

Am J Med Genet. 1993 Apr 1;46(1):12-5. doi: 10.1002/ajmg.1320460105.

Abstract

Clinical information has been obtained on 82 Angelman syndrome (AS) families in the UK. Each patient was examined by the author and a detailed clinical history taken. The findings of this study are presented.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Angelman Syndrome* / diagnosis
  • Angelman Syndrome* / physiopathology
  • Brain / diagnostic imaging
  • Child
  • Child Behavior
  • Child, Preschool
  • Developmental Disabilities
  • Face / abnormalities
  • Female
  • Humans
  • Infant
  • Male
  • Movement Disorders
  • Phenotype
  • Pigmentation Disorders
  • Psychomotor Disorders
  • Radiography
  • Scoliosis
  • Seizures
  • Sign Language
  • Sleep Wake Disorders
  • Speech Disorders
  • United Kingdom