A cluster of heritable pulmonary arterial hypertension cases in a family with all three siblings carrying the same novel AQP1 c.273C>G variant‐a case report

Approximately 25%–30% of patients diagnosed with idiopathic pulmonary arterial hypertension (PAH) have a clustered underlying Mendelian genetic cause and should be classified as heritable PAH (HPAH). The sixth World Symposium on Pulmonary Hypertension listed AQP1 as a PAH‐related gene. AQP1 and its...

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Detalles Bibliográficos
Autores principales: Liang, Kae‐Woei, Chang, Sheng‐Kai, Chen, Yu‐Wei, Tsai, Wan‐Jane, Wang, Kuo‐Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064854/
https://www.ncbi.nlm.nih.gov/pubmed/37007933
http://dx.doi.org/10.1002/pul2.12211

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064854/
https://www.ncbi.nlm.nih.gov/pubmed/37007933
http://dx.doi.org/10.1002/pul2.12211

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