Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern

American Journal of Medical Genetics, Part A

Volumn 155, Issue 12, 2011, Pages 3030-3034

  Martinez, Hugo R ^a   Niu, Mary C ^a   Sutton, V Reid ^b   Pignatelli, Ricardo ^a   Vatta, Matteo ^b   Jefferies, John L ^a,c,d  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c ST LUKE S EPISCOPAL HOSPITAL   (United States)

^d CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Coffin Lowry syndrome; Left ventricular noncompaction; Restrictive cardiomyopathy

Indexed keywords

ACETYLSALICYLIC ACID; AMBRISENTAN; ENALAPRIL; GUANFACINE; METOCLOPRAMIDE; SILDENAFIL;

ADOLESCENT; ARTICLE; CARDIOPULMONARY ARREST; CASE REPORT; CHILD; CLINICAL FEATURE; COFFIN LOWRY SYNDROME; DISEASE ASSOCIATION; DNA SEQUENCE; ECHOCARDIOGRAPHY; GENE; GENE IDENTIFICATION; GENE MUTATION; HEART ATRIUM ENLARGEMENT; HEART CATHETERIZATION; HEART RIGHT VENTRICLE HYPERTROPHY; HEART VALVE; HUMAN; LUNG VASCULAR RESISTANCE; MALE; MEDICAL HISTORY; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RPS6KA3 GENE; SCHOOL CHILD; TRICUSPID VALVE REGURGITATION; VENTRICULAR NONCOMPACTION;

ADOLESCENT; CARDIOMYOPATHY, RESTRICTIVE; CHILD; CHILD, PRESCHOOL; COFFIN-LOWRY SYNDROME; FACIES; HEART VENTRICLES; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA;

EID: 81955164203     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33856     Document Type: Article

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