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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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Brock, Stefanie, Stouffs, Katrien, Scalais, Emmanuel, D’Hooghe, Marc, Keymolen, Kathelijn, Guerrini, Renzo, Dobyns, William B., Di Donato, Nataliya, Jansen, Anna C.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer International Publishing 2018
Konular:
Article
Online Erişim: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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