The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2

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 short statu...

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Detalles Bibliográficos
Autores principales: Peeters, Silke, De Kinderen, Pauline, Meester, Josephina A. N., Verstraeten, Aline, Loeys, Bart L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322447/
https://www.ncbi.nlm.nih.gov/pubmed/35419902
http://dx.doi.org/10.1002/humu.24383

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322447/
https://www.ncbi.nlm.nih.gov/pubmed/35419902
http://dx.doi.org/10.1002/humu.24383

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