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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Bibliografski detalji

Glavni autori:	Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2019-02-01
Serija:	Orphanet Journal of Rare Diseases
Teme:	TUBA1A Tubulin Tubulinopathy Lissencephaly Brain malformation Microcephaly
Online pristup:	http://link.springer.com/article/10.1186/s13023-019-1020-x
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