The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

BACKGROUND: The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder mostly caused by de novo variants in TUBA1A. RESULTS: In three individuals with...

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Detalles Bibliográficos
Autores principales: Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B., Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T., Popp, Bernt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371496/
https://www.ncbi.nlm.nih.gov/pubmed/30744660
http://dx.doi.org/10.1186/s13023-019-1020-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371496/
https://www.ncbi.nlm.nih.gov/pubmed/30744660
http://dx.doi.org/10.1186/s13023-019-1020-x

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