Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

Fabiola P. Monteiro, Cynthia J. Curry, Robert Hevner, Stephen Elliott, Jamie H. Fisher, John Turocy, William B. Dobyns, Larissa A. Costa, Erika Freitas, João Paulo Kitajima, Fernando Kok

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