A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis

Recent studies have emphasized the association between tubulin gene mutations and developmental abnormalities of the cortex. In this study, the authors identified a mutation in the tubulin-encoding class III β-tubulin (TUBB3) gene in a 4-year-old boy presenting with brain abnormalities and unilatera...

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Detalles Bibliográficos
Autores principales: Fukumura, Shinobu, Kato, Mitsuhiro, Kawamura, Kentaro, Tsuzuki, Akiko, Tsutsumi, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2016
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417280/
https://www.ncbi.nlm.nih.gov/pubmed/28503613
http://dx.doi.org/10.1177/2329048X16665758

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417280/
https://www.ncbi.nlm.nih.gov/pubmed/28503613
http://dx.doi.org/10.1177/2329048X16665758

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