@article{articlebd4f5ce2, title = {Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations}, author = {Monteiro, Fabiola P and Curry, Cynthia J and Hevner, Robert and Elliott, Stephen and Fisher, Jamie H and Turocy, John and Dobyns, William B and Costa, Larissa A and Freitas, Erika and Kitajima, Joao Paulo and Kok, Fernando}, year = {2020}, doi = {10.1016/j.ejmg.2019.01.014}, journal = {European journal of medical genetics} }