Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Machado, R. D., Welch, C. L., Haimel, M., Bleda, M., Colglazier, E., Coulson, J. D., Debeljak, M., Ekstein, J., Fineman, J. R., Golden, W. C., Griffin, E. L., Hadinnapola, C., Harris, M. A., Hirsch, Y., Hoover-Fong, J. E., Nogee, L., Romer, L. H., Vesel, S., … Chung, W. K. (2021). Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. Journal of Medical Genetics, 59(9), 906–911. https://doi.org/10.1136/jmedgenet-2021-107831

Authors:

Rajiv D Machado

Carrie L Welch

Matthias Haimel

Marta Bleda

Elizabeth Colglazier

John D Coulson

Marusa Debeljak

Josef Ekstein

Jeffrey R Fineman

William Christopher Golden

Emily L Griffin