Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations

Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations

Abstract Background Tubulinopathies result from mutations in tubulin genes, including TUBG1, responsible for cell microtubules, are characterized by brain development abnormalities, microcephaly, early-onset epilepsy, and motor impairment. Only eleven patients with TUBG1 mutations have been previous...

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Bibliographic Details
Main Authors: Yue T. K. Yuen, Ilaria Guella, Elke Roland, Michael Sargent, Cyrus Boelman
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Medical Genetics
Subjects:
Microcephaly
TUBG1
Tubulin
Malformations of cortical development
Intellectual disability
Epilepsy
Online Access:http://link.springer.com/article/10.1186/s12881-019-0827-6

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http://link.springer.com/article/10.1186/s12881-019-0827-6

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