Article
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.
American journal of medical genetics. Part A - 1 Jan 2020
Bindels-de Heus Karen G C B, Mous Sabine E, Ten Hooven-Radstaake Maartje, van Iperen-Kolk Bianca M, Navis Cindy, Rietman André B, Ten Hoopen Leontine W, Brooks Alice S, Elgersma Ype, Moll Henriëtte A, de Wit Marie-Claire Y
Abstract excerpt
This study presents a broad overview of health issues and psychomotor development of 100 children with Angelman syndrome (AS), seen at the ENCORE Expertise Center for AS in Rotterdam, the Netherlands. We aimed to further delineate the phenotype of AS, to evaluate the association of the phenotype with genotype and other determinants such as epilepsy and to get insight in possible targets for intervention. We...
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