Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 3, 2011, Pages 486-507

  Lin, Angela E ^a   Alexander, Mark E ^b   Colan, Steven D ^b   Kerr, Bronwyn ^c   Rauen, Katherine A ^d,e   Noonan, Jacqueline ^f   Baffa, Jeanne ^g   Hopkins, Elizabeth ^h   Sol Church, Katia ^g   Limongelli, Giuseppe ⁱ   Digilio, Maria Christina ^j   Marino, Bruno ^k   Innes, A Micheil ^l   Aoki, Yoko ^m   Silberbach, Michael ⁿ   Delrue, Marie Ange ^o   White, Susan M ^p   Hamilton, Robert M ^q   O'Connor, William ^f   Grossfeld, Paul D ^r   Smoot, Leslie B ^b   Padera, Robert F ^s   Gripp, Karen W ^h   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF KENTUCKY MEDICAL CENTER   (United States)

^g NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^h Division of Medical Genetics   (United States)

ⁱ SECOND UNIVERSITY OF NAPLES   (Italy)

^j BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^k SAPIENZA UNIVERSITY OF ROME   (Italy)

^l UNIVERSITY OF CALGARY   (Canada)

^m TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁿ OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^o BORDEAUX UNIVERSITY HOSPITAL   (France)

^p Genetic Health Services Victoria   (Australia)

^q HOSPITAL FOR SICK CHILDREN   (Canada)

^r UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^s BRIGHAM AND WOMEN S HOSPITAL   (United States)

more..

Author keywords

Aortic dilation; Arrhythmias; Cardiovascular malformation; Chaotic atrial rhythm; Congenital heart defect; Ectopic atrial tachycardia; HRAS; Hypertrophic cardiomyopathy; Multifocal atrial tachycardia; Noonan spectrum syndromes; RASopathy

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CARDIOVASCULAR MALFORMATION; CAUSE OF DEATH; CHILD; CHRONIC DISEASE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; COSTELLO SYNDROME; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DISEASE COURSE; FEMALE; FOLLOW UP; GENE MUTATION; GENOTYPE; HEART ARRHYTHMIA; HEART ATRIUM SEPTUM DEFECT; HEART MUSCLE CELL; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; MAJOR CLINICAL STUDY; MALE; ONCOGENE H RAS; PATHOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY SUBVALVULAR STENOSIS; SCHOOL CHILD; SELF REPORT; SUPRAVENTRICULAR TACHYCARDIA;

ADOLESCENT; ADULT; CARDIOVASCULAR ABNORMALITIES; CHILD; CHILD, PRESCHOOL; COSTELLO SYNDROME; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MAP KINASE SIGNALING SYSTEM; MITOGEN-ACTIVATED PROTEIN KINASES; POSTMORTEM CHANGES; PROTO-ONCOGENE PROTEINS P21(RAS); RAS PROTEINS; YOUNG ADULT;

EID: 79952017072     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33857     Document Type: Article

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