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

Machado, Rajiv D ; Welch, Carrie L ; Haimel, Matthias ; Bleda, Marta ; Colglazier, Elizabeth ; Coulson, John D ; Debeljak, Marusa ; Ekstein, Josef ; Fineman, Jeffrey R ; Golden, William Christopher ; Griffin, Emily L ; Hadinnapola, Charaka ; Harris, Michael A ; Hirsch, Yoel ; Hoover-Fong, Julie Elizabeth ; Nogee, Lawrence ; Romer, Lewis H ; Vesel, Samo ; Gräf, Stefan ; Morrell, Nicholas W ; Southgate, Laura ; Chung, Wendy K

Journal of medical genetics, 2022-09, Vol.59 (9), p.906-911 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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