Ignacio Hernandez-Gonzalez Jair Tenorio Julian Palomino-Doza Amaya Martinez Meñaca Rafael Morales Ruiz Mauro Lago-Docampo María Valverde Gomez Javier Gomez Roman Ana Belén Enguita Valls Carmen Perez-Olivares Diana Valverde Joan Gil Carbonell Elvira Garrido-Lestache Rodríguez-Monte Maria Jesus Del Cerro Pablo Lapunzina Pilar Escribano-Subias
10.1371/journal.pone.0232216
PLoS One
2020 Apr 29;15(4):e0232216.
CC BY
https://pubmed.ncbi.nlm.nih.gov/32348326/
Familial Primary Pulmonary Hypertension / genetics Genetic Variation T-Box Domain Proteins / genetics
Familial Primary Pulmonary Hypertension / genetics Genetic Variation T-Box Domain Proteins / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Child Child, Preschool Codon, Nonsense Diagnosis, Differential Familial Primary Pulmonary Hypertension / diagnosis Familial Primary Pulmonary Hypertension / diagnostic imaging Female Gene Deletion Genetic Predisposition to Disease Humans Male Middle Aged Mutation, Missense Pedigree Phenotype Polymorphism, Single Nucleotide Prognosis Pulmonary Veno-Occlusive Disease / diagnosis Pulmonary Veno-Occlusive Disease / genetics Codon, Nonsense T-Box Domain Proteins TBX4 protein, human
PMC7190146
32348326
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4
2020