TY  - GEN
AU  - Wischmeijer,Anita
AU  - Van Laer,Lut
AU  - Tortora,Giada
AU  - Bolar,Nikhita Ajit
AU  - Van Camp,Guy
AU  - Fransen,Erik
AU  - Peeters,Nils
AU  - di Bartolomeo,Roberto
AU  - Pacini,Davide
AU  - Gargiulo,Gaetano
AU  - Turci,Simone
AU  - Bonvicini,Marco
AU  - Mariucci,Elisabetta
AU  - Lovato,Luigi
AU  - Brusori,Stefano
AU  - Ritelli,Marco
AU  - Colombi,Marina
AU  - Garavelli,Livia
AU  - Seri,Marco
AU  - Loeys,Bart L
TI  - Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype
SN  - 1552-4833
PY  - 2013///1125
KW  - Adolescent
KW  - Adult
KW  - Aortic Aneurysm, Thoracic
KW  - genetics
KW  - Child, Preschool
KW  - Female
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation
KW  - Osteoarthritis
KW  - Pedigree
KW  - Phenotype
KW  - Smad3 Protein
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.35852
ER  -