Article
Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.
European journal of medical genetics - 1 Apr 2020
Slavotinek Anne, van Hagen Johanna M, Kalsner Louisa, Pai Shashidhar, Davis-Keppen Laura, Ohden Lisa, Weber Yvonne G, Macke Erica L, Klee Eric W, Morava Eva, Gunderson Lauren, Person Richard, Liu Shuxi, Weiss Marjan
Abstract excerpt
The Jumonji domain containing 1C (JMJD1C) gene encodes the Jumonji domain-containing protein 1C (JMJD1C) and is a member of the jmJC domain-containing protein family involved in histone demethylation that is expressed in the brain. We report seven, unrelated patients with developmental delays or intellectual disability and heterozygous, de novo sequence variants in JMJD1C. All patients had developmental delays,...
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