Marfan syndrome
DM Milewicz, AC Braverman, J De Backer… - Nature reviews Disease …, 2021 - nature.com
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant
condition with substantial intrafamilial and interfamilial variability. MFS is caused by …
condition with substantial intrafamilial and interfamilial variability. MFS is caused by …
Guidelines for the diagnosis and management of Marfan syndrome
L Ades - Heart, Lung and Circulation, 2007 - heartlungcirc.org
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder involving the
cardiovascular, skeletal and ocular systems, the integument, lungs and dura. Cardinal …
cardiovascular, skeletal and ocular systems, the integument, lungs and dura. Cardinal …
The marfan syndrome
RE Pyeritz - Annual review of medicine, 2000 - annualreviews.org
▪ Abstract The Marfan syndrome (MFS), initially described just over 100 years ago, was
among the first conditions classified as a heritable disorder of connective tissue. MFS lies at …
among the first conditions classified as a heritable disorder of connective tissue. MFS lies at …
Aortopathy in Marfan syndrome: an update
F Romaniello, D Mazzaglia, A Pellegrino… - Cardiovascular …, 2014 - Elsevier
Marfan syndrome (MFS) is an inherited autosomal dominant multisystem disease caused by
mutations in the FBN1 gene encoding fibrillin-1, an extracellular matrix glycoprotein widely …
mutations in the FBN1 gene encoding fibrillin-1, an extracellular matrix glycoprotein widely …
[HTML][HTML] Marfan syndrome: An eyesight of syndrome
A Kumar, S Agarwal - Meta Gene, 2014 - Elsevier
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of
connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular …
connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular …
The musculoskeletal manifestations of Marfan syndrome: diagnosis, impact, and management
Abstract Purpose of Review Marfan syndrome (MFS) is an autosomal dominant heritable
disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal …
disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal …
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome
VM Becerra-Muñoz, JJ Gómez-Doblas… - Orphanet journal of rare …, 2018 - Springer
Background Marfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in
which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) …
which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) …
[HTML][HTML] Natural history of aortic root aneurysms in Marfan syndrome
Background Cardiovascular complications account for a significant proportion of the
shortened lifespan of Marfan syndrome (MFS) patients, with aortic dissection being the most …
shortened lifespan of Marfan syndrome (MFS) patients, with aortic dissection being the most …
Molecular pathogenesis of Marfan syndrome
CJA Ramachandra, A Mehta, KWQ Guo, P Wong… - International journal of …, 2015 - Elsevier
Marfan syndrome (MFS) is a genetic disorder that affects multiple organs. Mortality imposed
by aortic aneurysm and dissections represent the most serious clinical manifestation of MFS …
by aortic aneurysm and dissections represent the most serious clinical manifestation of MFS …
Genetic dissection of Marfan syndrome and related connective tissue disorders: an update 2012
S Hoffjan - Molecular Syndromology, 2012 - karger.com
Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue
characterized by early development of thoracic aortic aneurysms/dissections together with …
characterized by early development of thoracic aortic aneurysms/dissections together with …