Revisão Acesso aberto Revisado por pares

Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature

2023; Multidisciplinary Digital Publishing Institute; Volume: 14; Issue: 10 Linguagem: Inglês

10.3390/genes14101965

ISSN

2073-4425

Autores

Natalia Gallego, Lucía Miranda, Alejandro Cruz‐Utrilla, Maria Jesús del Cerro Marín, María Álvarez-Fuente, María del Mar Rodríguez Vázquez del Rey, Inmaculada Guillén Rodríguez, Víctor Manuel Becerra‐Muñoz, Amparo Moya-Bonora, Nuria Ochoa Parra, Alejandro Parra, Patricia Pascual, Mario Cazalla, Cristina Silván, Pedro Arias, Diana Valverde, Vinicio de Jesús-Pérez, Pablo Lapunzina, Pilar Escribano Subías, Jair Tenorio,

Tópico(s)

Vascular Anomalies and Treatments

Resumo

Pulmonary arterial hypertension (PAH) is an infrequent disorder characterized by high blood pressure in the pulmonary arteries. It may lead to premature death or the requirement for lung and/or heart transplantation. Genetics plays an important and increasing role in the diagnosis of PAH. Here, we report seven additional patients with variants in

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