Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinicall...

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Bibliographic Details
Main Authors: den Hoed, J, de Boer, E, Voisin, N, Dingemans, AJM, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, SM, Banka, S, Bena, FS, Ben-Zeev, B, Bonagura, VR, Bruel, A-L, Brunet, T, Brunner, HG, Chew, HB, Chrast, J, Cimbalistienė, L, Coon, H, DDD Study, Délot, EC, Démurger, F, Denommé-Pichon, A-S, Depienne, C, Donnai, D, Dyment, DA, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, YH, Hanebeck, J, Hehir-Kwa, JY, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, KL, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, AA, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A
Format: Journal article
Language:English
Published: Cell Press 2021

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