Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review

Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review

IntroductionTubulin genes have been related to severe neurological complications and the term “tubulinopathy” now refers to a heterogeneous group of disorders involving an extensive family of tubulin genes with TUBA1A being the most common. A review was carried out on the complex and severe brain ab...

Full description

Bibliographic Details
Main Authors: Piero Pavone, Pasquale Striano, Giovanni Cacciaguerra, Simona Domenica Marino, Enrico Parano, Xena Giada Pappalardo, Raffaele Falsaperla, Martino Ruggieri
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Pediatrics
Subjects:
TUBA1A-tubulinopathy
cerebral anomalies
Dandy–Walker Malformation
DWM phenotype
tubulinopathies
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1210272/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1210272/full

Similar Items