Article
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.
European journal of human genetics : EJHG - 1 Jan 2000
Moncla A, Malzac P, Voelckel M A, Auquier P, Girardot L, Mattei M G, Philip N, Mattei J F, Lalande M, Livet M O
Abstract excerpt
Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS according to molecular or cytogenetic status: maternal microdeletion of 15q11-q13 (approximately 70% of AS patients); uniparental disomy (UPD); defects in a putative imprinting centre (IM); the fourth includes 20-30% of AS individuals with biparental...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.