Browsing Ciències de la Salut by Author "Ishida, Miho"

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    • Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted human mutation 

      Alsina Casanova, Miguel; Monteagudo-Sánchez, Ana; Rodriguez Guerineau, Luciana; Court, Franck; Gazquez Serrano, Isabel; Martorell, Loreto; Rovira Zurriaga, Carlota; Moore, Gudrun E.; Ishida, Miho; Castañon, Montserrat; Moliner Calderon, Elisenda; Monk, David; Moreno Hernando, Julio (Human Mutation, 2017)
      Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare cause of pulmonary hypertension in newborns. Maternally inherited point mutations in Forkhead Box F1 gene (FOXF1), ...