Article
Pure subtelomeric microduplications as a cause of mental retardation.
Clinical genetics - 1 Oct 2007
Ruiter E M, Koolen D A, Kleefstra T, Nillesen W M, Pfundt R, de Leeuw N, Hamel B C J, Brunner H G, Sistermans E A, de Vries B B A
Abstract excerpt
Submicroscopic subtelomeric aberrations are a common cause of mental retardation (MR). New molecular techniques allow the identification of subtelomeric microduplications, but their frequency and significance are largely unknown. We determined the frequency of subtelomeric, pure microduplications...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.