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

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 t...

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Bibliographic Details
Main Authors: 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: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Brain Sciences
Subjects:
<i>WASF1</i>
autism
intellectual disability
neurodevelopmental disorder
Online Access:https://www.mdpi.com/2076-3425/11/7/931

Internet

https://www.mdpi.com/2076-3425/11/7/931

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