Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 5, 2008, Pages 620-628

  Limongelli, Giuseppe ^a   Sarkozy, Anna ^b,c   Pacileo, Giuseppe ^a   Calabrò, Paolo ^a   Digilio, Maria Cristina ^d   Maddaloni, Valeria ^a   Gagliardi, Giulia ^d   Di Salvo, Giovanni ^a   Iacomino, Maria ^a   Marino, Bruno ^c   Dallapiccola, Bruno ^b,c   Calabrò, Raffaele ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Clinical outcome; Left ventricular hypertrophy; LEOPARD syndrome; PTPN11 mutations

Indexed keywords

ADULT; ARTICLE; BRADYCARDIA; CLINICAL ARTICLE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; EXERCISE TEST; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEART ARREST; HEART ATRIUM FIBRILLATION; HEART FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HEART VENTRICLE TACHYCARDIA; HOLTER MONITORING; HUMAN; HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY; LEOPARD SYNDROME; MALE; PHENOTYPE; PRIORITY JOURNAL; SUDDEN DEATH; SUPRAVENTRICULAR TACHYCARDIA; ADOLESCENT; CHILD; ECHOGRAPHY; GENETICS; HEART ARRHYTHMIA; MIDDLE AGED; RISK FACTOR;

ADOLESCENT; ADULT; ARRHYTHMIAS, CARDIAC; CHILD; GENOTYPE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; LEOPARD SYNDROME; MIDDLE AGED; PHENOTYPE; RISK FACTORS;

EID: 43049101740     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32206     Document Type: Article

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