@article{Buelow2021,
author = {Buelow, Markus and Süßmuth, David and Smith, Laurie D. and Aryani, Omid and Castiglioni, Claudia and Stenzel, Werner and Bertini, Enrico and Schuelke, Markus and Knierim, Ellen},
year = {2021},
language = {eng},
copyright = {https://creativecommons.org/licenses/by/4.0/},
title = {Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum},
volume = {29},
issn = {1018-4813},
pages = {1121 - 1128},
url = "http://dx.doi.org/10.17169/refubium-40020",
}