Biallelic loss of function variants in ATP1A2 cause hydrops...

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European Journal of Medical Genetics 2019 / 1

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

Monteiro, Fabiola P., Curry, Cynthia J., Hevner, Robert, Elliott, Stephen, Fisher, Jamie H., Turocy, John, Dobyns, William B., Costa, Larissa A., Freitas, Erika, Kitajima, João Paulo, Kok, Fernando
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Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2019.01.014
Date:
January, 2019
File:
PDF, 18.49 MB
2019
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