Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

In humans, de novo truncating variants in <i>WASF1</i> (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series, there is limited information on the phenotypi...

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Autors principals:	Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L. O. Leppert, Julie S. Cohen
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2021-07-01
Col·lecció:	Brain Sciences
Matèries:	<i>WASF1</i> autism intellectual disability neurodevelopmental disorder
Accés en línia:	https://www.mdpi.com/2076-3425/11/7/931
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