Article
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.
Clinical epigenetics - 6 Jan 2021
Schenkel L C, Aref-Eshghi E, Rooney K, Kerkhof J, Levy M A, McConkey H, Rogers R C, Phelan K, Sarasua S M, Jain L, Pauly R, Boccuto L, DuPont B, Cappuccio G, Brunetti-Pierri N, Schwartz C E, Sadikovic B
Abstract excerpt
BACKGROUND: Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, including the SHANK3 gene. Genetic defects in a growing number of neurodevelopmental genes have been shown to cause...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.