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
ISSN2073-4425
AutoresNatalia 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
ResumoPulmonary 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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