The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

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 most...

Source: Orphanet Journal of Rare Diseases - February 11, 2019 Category: Internal Medicine Authors: Moritz Hebebrand, Ulrike H üffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel and Bernt Popp Tags: Research Source Type: research