Article
Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development
Turkish journal of medical sciences - 22 Oct 2020
Aksel Kiliçarslan Özge, Ataman Esra, Gürsoy Semra, Gürbüz Gürkan, Ünalp Aycan, Gençpinar Pinar, Olgaç Dündar Nihal, Edizer Selvinaz, Ülgenalp Ayfer, Giray Bozkaya Özlem
Abstract excerpt
Background and aim: The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and TUBB3) in etiology of malformations of cortical development has peaked in recent years. We aimed to determine tubulin gene defects on a patient population with simple and complex malformations of cortical development, and investigate the relationship between tubulin gene mutations and disease phenotype. Materials...
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