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Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes.

Clinical genetics - 1 Oct 2022

Durand Benjamin, Schaefer Elise, Burger Pauline, Baer Sarah, Schroder Carmen, Mandel Jean-Louis, Piton Amélie, Coutelle Romain

Abstract excerpt

DYRK1A and Wiedemann-Steiner syndromes (WSS) are two genetic conditions associated with neurodevelopmental disorders (NDDs). Although their clinical phenotype has been described, their behavioral phenotype has not systematically been studied using standardized assessment tools. To characterize the latter, we conducted a retrospective study, collecting data on developmental history, autism spectrum disorder (ASD),...

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PMID: 35821609
DOI: 10.1111/cge.14190

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