Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 2127-2129

  Limongelli, Giuseppe ^a   Russo, Silvia ^b   Digilio, Maria Cristina ^c   Masciadri, Maura ^b   Pacileo, Giuseppe ^a   Fratta, Fiorella ^a   Martone, Francesca ^a   Maddaloni, Valeria ^a   D'Alessandro, Raffaella ^a   Calabro, Paolo ^a   Russo, Maria Giovanna ^a   Calabro, Raffaele ^a   Larizza, Lidia ^b,d  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BISOPROLOL; MUTANT PROTEIN; PROTEIN SMC1A; UNCLASSIFIED DRUG;

AORTA VALVE REGURGITATION; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; DE LANGE SYNDROME; DISEASE ASSOCIATION; ELECTROCARDIOGRAPHY; FEMALE; FOLLOW UP; GENE MUTATION; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; KARYOTYPE; LETTER; MISSENSE MUTATION; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINUS TACHYCARDIA;

AMINO ACID SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; CELL CYCLE PROTEINS; CHILD; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE;

EID: 77955301845     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33486     Document Type: Letter

References (9)

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