%0 Journal Article
%T The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
%A Andr¨¦ Reis
%A Arif B. Ekici
%A Bernt Popp
%A Christian T. Thiel
%A Cornelia Kraus
%A Mandy Krumbiegel
%A Moritz Hebebrand
%A Regina Trollmann
%A Steffen Uebe
%A Ulrike H¨¹ffmeier
%A Ute Hehr
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2019
%R 10.1186/s13023-019-1020-x
%X The online version of this article (10.1186/s13023-019-1020-x) contains supplementary material, which is available to authorized users
%K TUBA1A
%K Tubulin
%K Tubulinopathy
%K Lissencephaly
%K Brain malformation
%K Microcephaly
%K Developmental delay
%K Human phenotype ontology
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371496/