1 results match your criteria: "Royal Devon University Healthcare NHS Foundation Trust (Heavitree Hospital)[Affiliation]"
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Am J Hum Genet
November 2022
Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree Hospital), Gladstone Road, Exeter EX1 2ED, UK. Electronic address:
Non-centrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CAMSAP family of molecules. Using exome sequencing on samples from five unrelated families, we show that bi-allelic CAMSAP1 loss-of-function variants cause a clinically recognizable, syndromic neuronal migration disorder.
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