Familial cardiac valvulopathy due to filamin A mutation

American Journal of Medical Genetics, Part A

Volumn 155, Issue 9, 2011, Pages 2236-2241

  Bernstein, Jonathan A ^a   Bernstein, Daniel ^a   Hehr, Ute ^b   Hudgins, Louanne ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

Aortic valve; Congenital; Filamin A; Mitral valve; Pulmonary valve; Tricuspid valve; Valvular heart disease; X linked

Indexed keywords

DIGOXIN;

AMINO ACID SUBSTITUTION; AORTA VALVE REGURGITATION; ARTERY SURGERY; ARTICLE; CARDIOVERSION; CASE REPORT; CHILD; DNA SEQUENCE; ECHOCARDIOGRAPHY; ECHOGRAPHY; FILAMIN A GENE; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM ENLARGEMENT; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; JOINT HYPERMOBILITY; MALE; MISSENSE MUTATION; MITRAL VALVE REGURGITATION; MUTATIONAL ANALYSIS; MUTATOR GENE; NEWBORN; ONSET AGE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA; PULMONARY VALVE INSUFFICIENCY; PULMONARY VALVE STENOSIS; PULMONARY VALVULOPLASTY; RARE DISEASE; SUPRAVENTRICULAR TACHYCARDIA; TRICUSPID VALVE REGURGITATION; VALVULAR HEART DISEASE; VESICOURETERAL REFLUX;

CHILD, PRESCHOOL; CONTRACTILE PROTEINS; FEMALE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HEART VALVE DISEASES; HEART VALVES; HUMANS; MALE; MICROFILAMENT PROTEINS; PEDIGREE; PHENOTYPE;

EID: 84860419994     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34132     Document Type: Article

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