The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2
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DOI: 10.1002/humu.24383
Abstract: Different pathogenic variants in the fibrillin‐1 gene (FBN1) cause Marfan syndrome and acromelic dysplasias. Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility, and muscle hypoplasia, acromelic dysplasia patients present with… read more here.
Keywords: insights focus; fibrillinopathies new; focus paradigm; fbn1 fbn2 ... See more keywords