| Autor: |
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, Charaka, Hadinnapola, Michael A, Harris, Yoel, Hirsch, Julie Elizabeth, Hoover-Fong, Lawrence, Nogee, Lewis H, Romer, Samo, Vesel, Stefan, Gräf, Nicholas W, Morrell, Laura, Southgate, Wendy K, Chung |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Journal of medical genetics. 59(9) |
| ISSN: |
1468-6244 |
| Popis: |
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 theWe report three families with a novel, autosomal recessive form of childhood-onset PAH due to biallelicOur findings support biallelic predicted deleterious |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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