Article
De novo mutations in the genome organizer CTCF cause intellectual disability.
American journal of human genetics - 11 Jul 2013
Gregor Anne, Oti Martin, Kouwenhoven Evelyn N, Hoyer Juliane, Sticht Heinrich, Ekici Arif B, Kjaergaard Susanne, Rauch Anita, Stunnenberg Hendrik G, Uebe Steffen, Vasileiou Georgia, Reis André, Zhou Huiqing, Zweier Christiane
Abstract excerpt
An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in CTCF in individuals with intellectual disability, microcephaly, and growth...
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