Prader-Willi and Angelman syndromes: update on genetic mechanisms and diagnostic complexities.
Significant advances have been made in determining the genetic basis of the Prader-Willi and Angelman syndromes; disorders in which genomic imprinting is abnormal. These advances will be instrumental in unravelling the pathogenesis that underlies these neurobehavioural disorders.
Khan
N L
NL
Department of Clinical Neurology, Institute of Neurology, London, UK.
Wood
N W
NW
D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15; D005192:Family Health; D017353:Gene Deletion; D018392:Genomic Imprinting / Q000502:physiology*; D006801:Humans; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D018570:Risk Assessment