| 概要 |
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) is a neurodevelopmental syndrome caused by heterozygous mutations in the RAB11B gene. This gene is one of three members of the Rab11 GTPase subfamily. The mutations alter GDP/GTP binding, inactivating the protein and inducing guanine nucleotide exchange factor (GEF) binding, which leads to protein mislocalization.
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| 著者 |
Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R |
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