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

In humans, de novo truncating variants in WASF1 (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 phenotypic spect...

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Detalles Bibliográficos
Autores principales: Srivastava, Siddharth, Macke, Erica L., Swanson, Lindsay C., Coulter, David, Klee, Eric W., Mullegama, Sureni V., Xie, Yili, Lanpher, Brendan C., Bedoukian, Emma C., Skraban, Cara M., Villard, Laurent, Milh, Mathieu, Leppert, Mary L. O., Cohen, Julie S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8307306/
https://www.ncbi.nlm.nih.gov/pubmed/34356165
http://dx.doi.org/10.3390/brainsci11070931

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8307306/
https://www.ncbi.nlm.nih.gov/pubmed/34356165
http://dx.doi.org/10.3390/brainsci11070931

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