Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome

Journal of Medical Genetics

Volumn 49, Issue 1, 2012, Pages 47-57

  van de Laar, Ingrid M B H ^a   van der Linde, Denise ^a   Oei, Edwin H G ^a   Bos, Pieter K ^a   Bessems, Johannes H ^a   Bierma Zeinstra, Sita M ^a   van Meer, Belle L ^a   Pals, Gerard ^b   Oldenburg, Rogier A ^a   Bekkers, Jos A ^a   Moelker, Adriaan ^a   de Graaf, Bianca M ^a   Matyas, Gabor ^c   Frohn Mulder, Ingrid M E ^a   Timmermans, Janneke ^d   Hilhorst Hofstee, Yvonne ^e   Cobben, Jan M ^f   Bruggenwirth, Hennie T ^a   van Laer, Lut ^g   Loeys, Bart ^g   De Backer, Julie ^h   Coucke, Paul J ^h   Dietz, Harry C ^i,j,k   Willems, Patrick J ^l   Oostra, Ben A ^a   De Paepe, Anne ^h   Roos Hesselink, Jolien W ^a   Bertoli Avella, Aida M ^a   Wessels, Marja W ^a   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

^g ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^h GHENT UNIVERSITY HOSPITAL   (Belgium)

ⁱ JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^k Smilow Center for Marfan Syndrome Research   (United States)

^l Genetic Diagnostics Belgium   (Belgium)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SMAD3 PROTEIN;

ABDOMINAL AORTA ANEURYSM; ADULT; AGED; ANEURYSM; ANEURYSM OSTEOARTHRITIS SYNDROME; AORTA DISSECTING ANEURYSM; ARTHRALGIA; ARTICLE; BICUSPID AORTIC VALVE; BRAIN ARTERY ANEURYSM; CAMPTODACTYLY; CHRONIC FATIGUE SYNDROME; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CYSTOCELE; FEMALE; FLATFOOT; FOLLOW UP; FRAMESHIFT MUTATION; HEART ATRIUM FIBRILLATION; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE HYPERTROPHY; HIP OSTEOARTHRITIS; HUMAN; HYPERTELORISM; INGUINAL HERNIA; INTERVERTEBRAL DISK DEGENERATION; JOINT LAXITY; KNEE OSTEOARTHRITIS; MALE; MIGRAINE; MISSENSE MUTATION; MITRAL VALVE DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOARTHRITIS; OSTEOCHONDRITIS DISSECANS; PALATE MALFORMATION; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SCOLIOSIS; SPONDYLOLISTHESIS; STRIA; THORACIC AORTA ANEURYSM; UTERUS PROLAPSE; VARICOSIS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGED; ANEURYSM; CARDIOVASCULAR ABNORMALITIES; CHILD; CODON, NONSENSE; COHORT STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MUTATION; OSTEOARTHRITIS; PEDIGREE; PHENOTYPE; SMAD3 PROTEIN; SYNDROME; YOUNG ADULT;

EID: 84856009900     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100382     Document Type: Article

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