Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
Mauricio A SáezJuana Fernández-RodríguezCatia MoutinhoJose V Sanchez-MutAntonio GomezEnrique VidalPaolo PetazziKarolina SzczesnaPaula Lopez-SerraMario LucarielloPatricia LordenRaul Delgado-MoralesOlga J de la CaridadDori HuertasJosep Lluis GelpíModesto OrozcoAdriana López-DorigaMontserrat MilàLuís A Perez-JuradoMercedes PinedaJudith ArmstrongConxi LázaroManel EstellerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
Our findings indicate that mutations in JMJD1C contribute to the development of Rett syndrome and intellectual disability.Genet Med 18 1, 378-385.