Thoracic Aortic Aneurysm in Infancy in Aneurysms-Osteoarthritis Syndrome Due to a Novel SMAD3 Mutation: Further Delineation of the Phenotype

American Journal of Medical Genetics, Part A

Volumn 161, Issue 5, 2013, Pages 1028-1035

  Wischmeijer, Anita ^a,b   Van Laer, Lut ^c   Tortora, Giada ^a   Bolar, Nikhita Ajit ^c   Van Camp, Guy ^c   Fransen, Erik ^c,d   Peeters, Nils ^c   di Bartolomeo, Roberto ^a   Pacini, Davide ^a   Gargiulo, Gaetano ^a   Turci, Simone ^a   Bonvicini, Marco ^a   Mariucci, Elisabetta ^a   Lovato, Luigi ^a   Brusori, Stefano ^a   Ritelli, Marco ^e   Colombi, Marina ^e   Garavelli, Livia ^b   Seri, Marco ^a   Loeys, Bart L ^c  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b Rheumatology Unit   (Italy)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e UNIVERSITY OF BRESCIA   (Italy)

Author keywords

Aneurysms osteoarthritis syndrome; Connective tissue disorder; SMAD3; Thoracic aortic aneurysm

Indexed keywords

SMAD3 PROTEIN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ADULT; ANEURYSM OSTEOARTHRITIS SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY HISTORY; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MOLECULAR DIAGNOSIS; PEDIGREE ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SMAD3 GENE; THORACIC AORTA ANEURYSM; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1 GENE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2 GENE;

ADOLESCENT; ADULT; AORTIC ANEURYSM, THORACIC; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MUTATION; OSTEOARTHRITIS; PEDIGREE; PHENOTYPE; SMAD3 PROTEIN; YOUNG ADULT;

EID: 84876813479     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35852     Document Type: Article

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