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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...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6057922/ https://ncbi.nlm.nih.gov/pubmed/29706637 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0146-y |
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