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

Machado R, Welch CL, Haimel M, Bleda M, Colglazier E, Coulson JD, Debeljak M, Ekstein J, Fineman JR, Golden WC, Griffin EL, Hadinnapola C, Harris MA, Hirsch Y, Hoover-Fong J, Nogee L, Romer LH, Vesel S, Graf S, Morrell N, Southgate L, Chung W