Article
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.
Journal of medical genetics - 1 Dec 2011
Willemsen Marjolein H, Vallès Astrid, Kirkels Laurens A M H, Mastebroek Mathilde, Olde Loohuis Nikkie, Kos Aron, Wissink-Lindhout Willemijn M, de Brouwer Arjan P M, Nillesen Willy M, Pfundt Rolph, Holder-Espinasse Muriel, Vallée Louis, Andrieux Joris, Coppens-Hofman Marjolein C, Rensen Hanneke, Hamel Ben C J, van Bokhoven Hans, Aschrafi Armaz, Kleefstra Tjitske
Abstract excerpt
BACKGROUND: MicroRNAs (miRNAs) are non-coding gene transcripts involved in post-transcriptional regulation of genes. Recent studies identified miRNAs as important regulators of learning and memory in model organisms. So far, no mutations in specific miRNA genes have been associated with impaired cognitive functions. METHODS AND RESULTS: In three sibs and two unrelated patients with intellectual disability (ID),...
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