Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 333-339

  Gallione, Carol ^a   Aylsworth, Arthur S ^b   Beis, Jill ^c   Berk, Terri ^d   Bernhardt, Barbara ^e   Clark, Robin D ^f   Clericuzio, Carol ^g   Danesino, Cesare ^h   Drautz, Joanne ^g   Fahl, Jeffrey ^g   Fan, Zheng ^b   Faughnan, Marie E ⁱ   Ganguly, Arupa ^e   Garvie, John ^j   Henderson, Katharine ^k   Kini, Usha ^l   Leedom, Tracey ^a   Ludman, Mark ^m   Lux, Andreas ⁿ   Maisenbacher, Melissa ^o   Mazzucco, Sara ^p   Olivieri, Carla ^h   Van Ploos Amstel, Johannes K ^q   Prigoda Lee, Nadia ^r   Pyeritz, Reed E ^e   Reardon, Willie ^s   Vandezande, Kirk ^r   Waldman, J Deane ^g   White Jr , Robert I ^k   Williams, Charles A ^o   Marchuk, Douglas A ^a   more..

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c IWK HEALTH CENTRE   (Canada)

^d MOUNT SINAI HOSPITAL   (Canada)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f LOMA LINDA UNIVERSITY MEDICAL CENTER   (United States)

^g UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF PAVIA   (Italy)

ⁱ ST MICHAEL'S HOSPITAL   (Canada)

^j ST JOSEPH'S HOSPITAL AND MEDICAL CENTER   (United States)

^k YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^m DALHOUSIE UNIVERSITY   (Canada)

ⁿ UNIVERSITY OF HEIDELBERG   (Germany)

^o UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^p UNIVERSITY OF VERONA   (Italy)

^q UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^r TORONTO WESTERN HOSPITAL   (Canada)

^s OUR LADY S CHILDREN S HOSPITAL   (Ireland)

more..

Author keywords

Allelic series; Genotype:phenotype correlation; Hereditary hemorrhagic telangiectasia; JP HHT syndrome; Juvenile polyposis; SMAD4

Indexed keywords

SMAD4 PROTEIN;

ARTICLE; CLINICAL ARTICLE; COMORBIDITY; DIGESTIVE SYSTEM CANCER; GENE CLUSTER; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFORMATION RETRIEVAL; INTESTINE INJURY; JUVENILE POLYP; MUTATIONAL ANALYSIS; POLYPOSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; RENDU OSLER WEBER DISEASE; RISK FACTOR;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; GASTROINTESTINAL NEOPLASMS; HUMANS; INFANT; MIDDLE AGED; MUTATION; PROTEIN STRUCTURE, TERTIARY; SMAD4 PROTEIN; SYNDROME; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 75449083190     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33206     Document Type: Article

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