Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

American Journal of Medical Genetics, Part A

Volumn 167, Issue 12, 2015, Pages 2893-2901

  Starr, Lois J ^a   Grange, Dorothy K ^b   Delaney, Jeffrey W ^c   Yetman, Anji T ^c   Hammel, James M ^c   Sanmann, Jennifer N ^a   Perry, Deborah A ^c   Schaefer, G Bradley ^d   Olney, Ann Haskins ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL AND MEDICAL CENTER   (United States)

^d ARKANSAS CHILDREN S HOSPITAL   (United States)

Author keywords

Connective tissue disorder; Myhre syndrome; Restrictive cardiomyopathy; SMAD4; TGF

Indexed keywords

BRAIN NATRIURETIC PEPTIDE; INOTROPIC AGENT; SMAD4 PROTEIN; SMAD4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AORTA COARCTATION; AORTA STENOSIS; AORTIC VALVE REPAIR; ARTICLE; ARTIFICIAL VENTILATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; CREBBP GENE; DISEASE COURSE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; EXTRACORPOREAL OXYGENATION; FEMALE; FORCED EXPIRATORY VOLUME; GASTROESOPHAGEAL REFLUX; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEART CATHETERIZATION; HEART FAILURE; HEART SEPTUM DEFECT; HEART TRANSPLANTATION; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN DEFICIENCY; LUNG BIOPSY; LUNG DISEASE; LUNG TRANSPLANTATION; MALE; MITRAL VALVE REPAIR; MITRAL VALVE STENOSIS; MORBIDITY; MORTALITY; MOTOR DEVELOPMENT; MYHRE SYNDROME; MYRINGOTOMY; NOONAN SYNDROME; OTITIS MEDIA; PATENT DUCTUS ARTERIOSUS; PERICARDITIS; PHENOTYPE; PLEURA EFFUSION; POSTOPERATIVE COMPLICATION; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SCHOOL CHILD; SMAD4 GENE; SMALL FOR DATE INFANT; SPIROMETRY; SUBGLOTTIC STENOSIS; SYSTOLIC HEART MURMUR; TRACHEOSTOMY; TRANSLUMINAL VALVULOPLASTY; TRICUSPID VALVE REPAIR; CASE REPORT; COMPLICATION; CRYPTORCHIDISM; ELECTROCARDIOGRAPHY; FACIES; GENETICS; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HEART DISEASES; INTELLECTUAL DISABILITY; MUTATION; PREGNANCY; YOUNG ADULT;

CHILD; CRYPTORCHIDISM; ELECTROCARDIOGRAPHY; FACIES; FEMALE; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HEART DISEASES; HEART TRANSPLANTATION; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; PREGNANCY; SMAD4 PROTEIN; YOUNG ADULT;

EID: 84959333419     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37273     Document Type: Article

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