PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with noonan syndrome

Pediatric Cardiology

Volumn 31, Issue 1, 2010, Pages 114-116

  Jefferies, John L ^a,b   Belmont, John W ^c   Pignatelli, Ricardo ^a   Towbin, Jeffrey A ^a   Craigen, William J ^c  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b ST LUKE S EPISCOPAL HOSPITAL   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Aortic root dilation; Hypertrophic cardiomyopathy; Noonan syndrome PTPN11 mutation; Pulmonary artery dilation

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2;

AORTA DISEASE; AORTA ROOT; AORTA ROOT DILATION; ARTICLE; CASE REPORT; CHILD; FEMALE; GENE MUTATION; HEART LEFT VENTRICLE HYPERTROPHY; HEMOPHILIA; HUMAN; HYPERTELORISM; HYPERTROPHIC CARDIOMYOPATHY; HYPOTHYROIDISM; NOONAN SYNDROME; PULMONARY ARTERY DILATION; PULMONARY VASCULAR DISEASE; SCHOOL CHILD; SHORT STATURE; THORAX MALFORMATION; WEBBED NECK;

AORTA; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; DILATATION, PATHOLOGIC; FEMALE; HUMANS; MUTATION; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PULMONARY ARTERY;

EID: 75549086149     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00246-009-9537-8     Document Type: Article

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