Natalia Gallego-Zazo, Lucía Miranda-Alcaraz, Alejandro Cruz-Utrilla, María Jesús Del Cerro Marín, María Álvarez-Fuente, María Del Mar Rodríguez Vázquez Del Rey, Inmaculada Guillén Rodríguez, Victor Manuel Becerra-Munoz, 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-Castano
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 SOX17 and a review of sixty previously described patients in the literature. Patients described in this study suffered with additional conditions including large septal defects, as described by other groups...
October 20, 2023: Genes