Defining the phenotypical spectrum associated with variants in TUBB2A

BACKGROUND: Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging features, ranging from a normal cortex to polymic...

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Detalles Bibliográficos
Autores principales: Brock, Stefanie, Vanderhasselt, Tim, Vermaning, Sietske, Keymolen, Kathelijn, Régal, Luc, Romaniello, Romina, Wieczorek, Dagmar, Storm, Tim Matthias, Schaeferhoff, Karin, Hehr, Ute, Kuechler, Alma, Krägeloh-Mann, Ingeborg, Haack, Tobias B, Kasteleijn, Esmee, Schot, Rachel, Mancini, Grazia Maria Simonetta, Webster, Richard, Mohammad, Shekeeb, Leventer, Richard J, Mirzaa, Ghayda, Dobyns, William B, Bahi-Buisson, Nadia, Meuwissen, Marije, Jansen, Anna C, Stouffs, Katrien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7803914/
https://www.ncbi.nlm.nih.gov/pubmed/32571897
http://dx.doi.org/10.1136/jmedgenet-2019-106740

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7803914/
https://www.ncbi.nlm.nih.gov/pubmed/32571897
http://dx.doi.org/10.1136/jmedgenet-2019-106740

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