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A Complex Cortical Malformation Caused by a Mutation in the Tubulin-Encoding TUBB3 Gene

Tubulinopathy commonly refers to complex congenital and non-progressive brain malformations caused by mutations in the tubulin genes. Among tubulin-encoding genes, TUBB3 has rarely been reported as a cause of complex cortical malformations. Herein, we report a case of tubulinopathy in a 21-month-old...

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Detalles Bibliográficos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Radiology 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9431865/
https://www.ncbi.nlm.nih.gov/pubmed/36238036
http://dx.doi.org/10.3348/jksr.2019.0175