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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Abstract 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 individual...

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Guardado en:
Autores principales: Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp
Formato: Artigo
Lenguaje:Inglês
Publicado: BMC 2019-02-01
Colección:Orphanet Journal of Rare Diseases
Materias:
TUBA1A
Tubulin
Tubulinopathy
Lissencephaly
Brain malformation
Microcephaly
Acceso en línea:http://link.springer.com/article/10.1186/s13023-019-1020-x
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