The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
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
Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103982
Abstract: A phenotype of an individual is resulted from an interaction among variants in several genes. Advanced molecular technologies allow us to identify more patients with mutations in more than one genes. Here, we studied a… read more here.
Keywords: beals syndromes; fbn1 fbn2; double heterozygous; aortic root ... See more keywords