Article
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Biological psychiatry - 15 Feb 2019
Van Dijck Anke, Vulto-van Silfhout Anneke T, Cappuyns Elisa, van der Werf Ilse M, Mancini Grazia M, Tzschach Andreas, Bernier Raphael, Gozes Illana, Eichler Evan E, Romano Corrado, Lindstrand Anna, Nordgren Ann, Kvarnung Malin, Kleefstra Tjitske, de Vries Bert B A, Küry Sébastien, Rosenfeld Jill A, Meuwissen Marije E, Vandeweyer Geert, Kooy R Frank
Abstract excerpt
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.