Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations

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 previously descr...

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Detalles Bibliográficos
Autores principales: Yuen, Yue T. K., Guella, Ilaria, Roland, Elke, Sargent, Michael, Boelman, Cyrus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6545025/
https://www.ncbi.nlm.nih.gov/pubmed/31151415
http://dx.doi.org/10.1186/s12881-019-0827-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6545025/
https://www.ncbi.nlm.nih.gov/pubmed/31151415
http://dx.doi.org/10.1186/s12881-019-0827-6

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