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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V. Lenaerts L, et al. Among authors: verbinnen i. Genet Med. 2021 Feb;23(2):352-362. doi: 10.1038/s41436-020-00981-2. Epub 2020 Oct 27. Genet Med. 2021. PMID: 33106617 Free PMC article.
Phosphatase Regulator NIPP1 Restrains Chemokine-Driven Skin Inflammation.
Verbinnen I, Jonkhout M, Liakath-Ali K, Szekér K, Ferreira M, Boens S, Rouget R, Nikolic M, Schlenner S, Van Eynde A, Bollen M. Verbinnen I, et al. J Invest Dermatol. 2020 Aug;140(8):1576-1588. doi: 10.1016/j.jid.2020.01.008. Epub 2020 Jan 21. J Invest Dermatol. 2020. PMID: 31972250 Free PMC article.
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