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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Bibliografiske detaljer

Principais autores:	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
Sprog:	Inglês
Udgivet:	MDPI AG 2021-07-01
Serier:	Brain Sciences
Fag:	<i>WASF1</i> autism intellectual disability neurodevelopmental disorder
Online adgang:	https://www.mdpi.com/2076-3425/11/7/931
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