Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study

• Main Authors: Hey-Joon Son (Author), Minhye Kim (Author), Hye Jin Kim (Author), Jae So Cho (Author), Soo Yeon Kim (Author), Byung Chan Lim (Author), Ki Joong Kim (Author), Jong-Hee Chae (Author), Woo Joong Kim (Author)
• Format: Book
• Published: Korean Child Neurology Society, 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Purpose Tubulinopathy represents a group of disorders caused by variants in tubulin genes, which present with a wide spectrum of brain malformations. This study was conducted to provide insight into the phenotypic and genetic spectra of tubulinopathy within the Korean pediatric population. Methods A...