The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Moritz HebebrandUlrike HüffmeierRegina TrollmannUte HehrSteffen UebeArif B EkiciCornelia KrausMandy KrumbiegelAndré ReisChristian T ThielBernt Popp

Published in: Orphanet journal of rare diseases (2019)

With 166 individuals, we present the most comprehensive phenotypic and genotypic standardized synopsis for clinical interpretation of TUBA1A variants. Despite this considerable number, a detailed genotype-phenotype characterization is limited by large inter-study variability in reporting.

Keyphrases

copy number
emergency department
adverse drug
electronic health record
drug induced