SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1165-1169

  Andrabi, Sara ^a   Bekheirnia, Mir Reza ^a   Robbins Furman, Patricia ^a   Lewis, Richard Alan ^a,b   Prior, Thomas W ^c   Potocki, Lorraine ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

Aortopathy; FBN1; Hereditary hemorrhagic telangiectasia; Loeys Dietz syndrome; SMAD4; TGFBR1; TGFBR2

Indexed keywords

LAXATIVE;

ADENOMATOUS POLYP; ADULT; AORTA DISEASE; AORTIC ROOT DILATION; ARACHNODACTYLY; ARTICLE; ASCENDING AORTA DILATION; AUTOPSY; BRONCHITIS; CHILD; CLINICAL ARTICLE; COLON CANCER; COLON POLYP; COLON RESECTION; COLONOSCOPY; CONSTIPATION; EPISTAXIS; FAMILIAL ADENOMATOUS POLYPOSIS; FAMILY HISTORY; FEMALE; GASTROINTESTINAL HEMORRHAGE; GENE; GENE MUTATION; GENETIC SCREENING; HEART ARRHYTHMIA; HEART DISEASE; HEART LEFT VENTRICLE DILATATION; HEART PALPITATION; HUMAN; JOINT HYPERMOBILITY; JUVENILE POLYPOSIS SYNDROME; KYPHOSCOLIOSIS; LORDOSIS; LUMBAR LORDOSIS; LUNG METASTASIS; MALE; MARFAN SYNDROME; MEDICAL RECORD REVIEW; MITRAL VALVE DISEASE; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PEDIGREE ANALYSIS; PIGEON THORAX; POLYPOSIS; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SMAD4 GENE; SPINE RADIOGRAPHY; THORACOLUMBAR SCOLIOSIS;

AORTA; CHILD; FEMALE; HUMANS; INTESTINAL POLYPOSIS; MALE; MITRAL VALVE; MUTATION; PEDIGREE; SMAD4 PROTEIN;

EID: 79955009402     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33968     Document Type: Article

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