Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review
Kazuki Watanabe, Mitsuko Nakashima, Satoko Kumada, Hideaki Mashimo, Mikako Enokizono, Keitaro Yamada, Mitsuhiro Kato, Hirotomo Saitsu
Topics & Concepts
Corpus callosumBiologyMicrocephalyCerebellumMissense mutationAnatomyPathologyNeuroscienceGeneticsMedicineMutationGeneFetal and Pediatric Neurological DisordersGenetic and Kidney Cyst DiseasesMicrotubule and mitosis dynamics