A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome

While loss-of-function variants in the WAS gene are associated with Wiskott-Aldrich syndrome and lead to microthrombocytopenia, gain-of-function variants of WAS are associated with X-linked neutropenia (XLN) and the absence of microthrombocytopenia. Only a few XLN families have been reported so far,...

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Detalles Bibliográficos
Autores principales: Marx, David, Dupuis, Arnaud, Eckly, Anita, Molitor, Anne, Olagne, Jérôme, Touchard, Guy, Kaaki, Sihem, Ory, Cécile, Faller, Anne-Laure, Gérard, Bénédicte, Cotter, Melanie, Westerberg, Lisa, Keszei, Marton, Moulin, Bruno, Gachet, Christian, Caillard, Sophie, Bahram, Seiamak, Carapito, Raphaël
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Stimulus Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631694/
https://www.ncbi.nlm.nih.gov/pubmed/35404999
http://dx.doi.org/10.1182/bloodadvances.2021006789

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631694/
https://www.ncbi.nlm.nih.gov/pubmed/35404999
http://dx.doi.org/10.1182/bloodadvances.2021006789

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