Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations

American Journal of Medical Genetics, Part A

Volumn 161, Issue 1, 2013, Pages 185-191

  Teekakirikul, Polakit ^a,b   Milewicz, Dianna M ^c   Miller, David T ^d,e   Lacro, Ronald V ^d,e   Regalado, Ellen S ^c   Rosales, Ana Maria ^a,d   Ryan, Daniel P ^a,d   Toler, Tomi L ^a   Lin, Angela E ^a,d  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Aortic dilation; Hereditary hemorrhagic telangiectasia; Juvenile polyposis syndrome; SMAD4; TGF beta signaling; Thoracic aortic aneurysm and dissection

Indexed keywords

SMAD4 PROTEIN;

ADULT; ANEMIA; AORTA; AORTA DISEASE; ARTICLE; CASE REPORT; CHILD; COLON RESECTION; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; DIZZINESS; ECHOCARDIOGRAPHY; EPISTAXIS; FEMALE; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; JUVENILE POLYPOSIS SYNDROME; MALE; MARFAN SYNDROME; MEDICAL HISTORY; NODULAR HYPERPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PALLOR; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PULMONARY ARTERIOVENOUS FISTULA; RECTUM HEMORRHAGE; RENDU OSLER WEBER DISEASE; SCHOOL CHILD; SMAD4 GENE; THORACIC AORTA;

ADULT; AORTA; AORTIC ANEURYSM, THORACIC; CHILD; ECHOCARDIOGRAPHY; FEMALE; HUMANS; INTESTINAL POLYPOSIS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SIGNAL TRANSDUCTION; SMAD3 PROTEIN; SMAD4 PROTEIN; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; TRANSFORMING GROWTH FACTOR BETA;

EID: 84871708823     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35659     Document Type: Article

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