Hernandez-Gonzalez, Ignacio

Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4. [electronic resource] - PloS one 2020 - e0232216 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1932-6203

10.1371/journal.pone.0232216 doi


Adolescent
Adult
Child
Child, Preschool
Codon, Nonsense
Diagnosis, Differential
Familial Primary Pulmonary Hypertension--diagnosis
Female
Gene Deletion
Genetic Predisposition to Disease
Genetic Variation
Humans
Male
Middle Aged
Mutation, Missense
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Prognosis
Pulmonary Veno-Occlusive Disease--diagnosis
T-Box Domain Proteins--genetics