Article
Recent Advances in Imprinting Disorders.
Clinical genetics - 1 Jan 2017
Soellner L, Begemann M, Mackay D J G, Grønskov K, Tümer Z, Maher E R, Temple I K, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T
Abstract excerpt
Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ImpDis are characterized by the same types of mutations and epimutations, i.e. uniparental disomies, copy number variations, epimutations, and point mutations. Each ImpDis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.