title: Early onset severe pulmonary arterial hypertension with 'two-hit' digenic mutations in both BMPR2 and KCNA5 genes.
authors.affiliation: John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Guoliang
authors.initials: G
authors.lastname: Wang
authors.affiliation: Sibley Heart Center Cardiology, Atlanta, GA 30341, USA.
authors.forename: Linda
authors.initials: L
authors.lastname: Knight
authors.affiliation: John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Ruirui
authors.initials: R
authors.lastname: Ji
authors.affiliation: Children's Healthcare of Atlanta, Atlanta, GA 30329, USA.
authors.forename: Patricia
authors.initials: P
authors.lastname: Lawrence
authors.affiliation: Sibley Heart Center Cardiology, Atlanta, GA 30341, USA; Children's Healthcare of Atlanta, Atlanta, GA 30329, USA; Division of Pediatric Cardiology, Emory University School of Medicine, Atlanta, GA 30322, USA.
authors.forename: Usama
authors.initials: U
authors.lastname: Kanaan
authors.affiliation: John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Lei
authors.initials: L
authors.lastname: Li
authors.affiliation: John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Anuka
authors.initials: A
authors.lastname: Das
authors.affiliation: John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Bin
authors.initials: B
authors.lastname: Cui
authors.affiliation: John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Wenxin
authors.initials: W
authors.lastname: Zou
authors.affiliation: John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Penny
authors.affiliation: John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: yuxinf@bcm.edu.
authors.forename: Yuxin
authors.initials: Y
authors.lastname: Fan
mesh_terms: D000293:Adolescent; D000328:Adult; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D051666:Kv1.5 Potassium Channel / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012720:Severity of Illness Index
chemical_list: C496981:KCNA5 protein, human; D051666:Kv1.5 Potassium Channel; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II
keywords: BMPR2; Frameshift mutation; KCNA5; Pulmonary arterial hypertension