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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2018
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| Materias: | |
| 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 |