Appreciating the broad clinical features of SMAD4 mutation carriers: A multicenter chart review

Genetics in Medicine

Volumn 16, Issue 8, 2014, Pages 588-593

  Wain, Karen E ^a   Ellingson, Marissa S ^a   McDonald, Jamie ^b   Gammon, Amanda ^c   Roberts, Maegan ^d   Pichurin, Pavel ^a   Winship, Ingrid ^e,f   Riegert Johnson, Douglas L ^g   Weitzel, Jeffrey N ^h   Lindor, Noralane M ^a  

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF UTAH   (United States)

^d GENEDX   (United States)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f ROYAL MELBOURNE HOSPITAL   (Australia)

^g MAYO CLINIC   (United States)

^h CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

connective tissue; HHT; JP; SMAD4

Indexed keywords

CARRIER PROTEIN; SMAD4 PROTEIN; SMAD4 PROTEIN, HUMAN; TRANSFORMING GROWTH FACTOR BETA;

ADOLESCENT; ADULT; AGED; AORTA DISSECTION; AORTA ROOT; AORTA VALVE REGURGITATION; ARTERIOVENOUS MALFORMATION; ARTICLE; BRAIN ARTERIOVENOUS MALFORMATION; BRAIN ARTERY ANEURYSM; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL PRACTICE; CONNECTIVE TISSUE DISEASE; EPISTAXIS; FAMILIAL COLON POLYPOSIS; GENETIC HETEROGENEITY; HUMAN; INFANT; LOSS OF FUNCTION MUTATION; MEDICAL RECORD REVIEW; MITRAL VALVE REGURGITATION; MULTICENTER STUDY (TOPIC); PHENOTYPE; PULMONARY ARTERIOVENOUS FISTULA; PULMONARY SHUNT; RENDU OSLER WEBER DISEASE; RETINA DETACHMENT; RETROSPECTIVE STUDY; STOMACH POLYPOSIS; CLINICAL TRIAL; CONNECTIVE TISSUE; FAMILIAL CANCER; GENETICS; INTESTINAL POLYPOSIS; MIDDLE AGED; MULTICENTER STUDY; MUTATION; PATHOLOGY; PRESCHOOL CHILD; SIGNAL TRANSDUCTION; YOUNG ADULT; AORTA DISEASE; COLON POLYP; COLORECTAL CANCER; ESOPHAGEAL ADENOCARCINOMA; GENE MUTATION; HETEROZYGOTE; HISTOLOGY; JOINT LAXITY; LYMPHOMA; MIGRAINE; OVARY TERATOMA; PANCREAS TUMOR; SEIZURE; STOMACH POLYP; THYROID FOLLICULAR CARCINOMA;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CONNECTIVE TISSUE; HUMANS; INFANT; INTESTINAL POLYPOSIS; MIDDLE AGED; MUTATION; NEOPLASTIC SYNDROMES, HEREDITARY; RETROSPECTIVE STUDIES; SIGNAL TRANSDUCTION; SMAD4 PROTEIN; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; TRANSFORMING GROWTH FACTOR BETA; YOUNG ADULT;

EID: 84905567897     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.5     Document Type: Article

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