A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.
Marx D, Dupuis A, Eckly A, Molitor A, Olagne J, Touchard G, Kaaki S, Ory C, Faller AL, Gérard B, Cotter M, Westerberg L, Keszei M, Moulin B, Gachet C, Caillard S, Bahram S, Carapito R.
Marx D, et al. Among authors: moulin b.
Blood Adv. 2022 Sep 27;6(18):5279-5284. doi: 10.1182/bloodadvances.2021006789.
Blood Adv. 2022.
PMID: 35404999
Free PMC article.