Article
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
American journal of human genetics - 7 Sept 2017
Reijnders Margot R F, Ansor Nurhuda M, Kousi Maria, Yue Wyatt W, Tan Perciliz L, Clarkson Katie, Clayton-Smith Jill, Corning Ken, Jones Julie R, Lam Wayne W K, Mancini Grazia M S, Marcelis Carlo, Mohammed Shehla, Pfundt Rolph, Roifman Maian, Cohn Ronald, Chitayat David, Millard Tom H, Katsanis Nicholas, Brunner Han G, Banka Siddharth
Abstract excerpt
RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous cellular functions essential for normal development. RAC1 is highly conserved across species and is under strict mutational constraint. We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. Four individuals, each harboring...
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