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...
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 |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-07-01
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Series: | Brain Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/2076-3425/11/7/931 |
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