Open AccessInvestigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development
Author(s) -
Özge Aksel Kiliçarslan,
Esra Ataman,
Semra Gürsoy,
Gürkan Gürbüz,
Aycan Ünalp,
Pınar Gençpınar,
Nihal Olgaç Dündar,
Selvinaz Edizer,
Ayfer Ülgenalp,
Özlem Giray Bozkaya
Publication year - 2020
Publication title -
turkish journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.277
H-Index - 27
eISSN - 1303-6165
pISSN - 1300-0144
DOI - 10.3906/sag-1901-170
Subject(s) - lissencephaly , medicine , corpus callosum , etiology , cortical dysplasia , genetic counseling , pathology , global developmental delay , phenotype , neuroscience , bioinformatics , magnetic resonance imaging , gene , genetics , radiology , biology
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.