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

BACKGROUND: The molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the ATP13A3 gene were recently identified as a new cause of adult-onset PAH. However, the contributio...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Novel Disease Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411922/
https://www.ncbi.nlm.nih.gov/pubmed/34493544
http://dx.doi.org/10.1136/jmedgenet-2021-107831

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