Aneurysms osteoarthritis syndrome aos caused by smad3 gene mutations predisposes patients to aggressive and widespread cardiovascular disease and early onset osteoarthritis because this syndrome has only been discovered recently and the full spectrum of the disease is not entirely elucidated yet inevitably current clinical recommendations . Background aneurysms osteoarthritis syndrome aos is a new autosomal dominant syndromic form of thoracic aortic aneurysms and dissections characterised by the presence of arterial aneurysms and tortuosity mild craniofacial skeletal and cutaneous anomalies and early onset osteoarthritis aos is caused by mutations in the smad3 gene. Aneurysms osteoarthritis syndrome smad3 gene mutations is a first of its kind compilation of the genetic discovery research and care associated with aos with the field of genetically triggered aortopathies growing this important reference will compile the newest discoveries in this field allowing cardiologists cardio thoracic surgeons clinical geneticists vascular surgeons orthopedic . In the spectrum of inheritable connective tissue disorders with arterial involvement a new genetic syndrome caused by mutations in the smad3 gene was recently delineated and named aneurysms osteoarthritis syndrome aos 1 x 1 van de laar im oldenburg ra pals g et al mutations in smad3 cause a syndromic form of aortic aneurysms and dissections with early onset osteoarthritis. We mapped the genetic locus to chromosome 15q222 242 and show that the disease is caused by mutations in smad3 this gene encodes a member of as aneurysms osteoarthritis syndrome aos
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