Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

Tubulinopathies are a heterogeneous group of conditions with a wide spectrum of clinical severity resulting from variants in genes of the tubulin superfamily. Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. We here report eight addition...

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Detalles Bibliográficos
Autores principales: Brock, Stefanie, Stouffs, Katrien, Scalais, Emmanuel, D’Hooghe, Marc, Keymolen, Kathelijn, Guerrini, Renzo, Dobyns, William B., Di Donato, Nataliya, Jansen, Anna C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057922/
https://www.ncbi.nlm.nih.gov/pubmed/29706637
http://dx.doi.org/10.1038/s41431-018-0146-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057922/
https://www.ncbi.nlm.nih.gov/pubmed/29706637
http://dx.doi.org/10.1038/s41431-018-0146-y

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