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Marfan syndrome type 2
Review Articles from PubMed
Editorials from PubMed
Research Articles from PubMed
Marfan syndrome (MFS) is a genetic disorder of the connective tissue. MFS has an incidence of about 2 to 3 persons per 10,000 population. MFS is characterized majorly by the involvement of the eyes, skeletal muscles, and cardiovascular system. There are limited case reports of co-existence ...
Transforming growth factor beta receptor II (TGFBR2) gene mutations are associated with Marfan syndrome; however, the relationship between the mutations and clinical phenotypes are not clear.
Fibulin-2 (FBLN2) is a new extracellular matrix protein that has been considered a candidate gene for Marfan syndrome type 2 (locus MFS2) based on chromosomal colocation at 3p24.2-p25 and disease phenotype. In the absence of polymorphic markers reported for FBLN2, direct sequencing ...