Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
Reyes-Hernández OD, Palacios-Reyes C, Chávez-Ocaña S, Cortés-Malagón EM, Alonso-Themann PG, Ramos-Cano V, Ramírez-Bello J, Sierra-Martínez M.
Reyes-Hernández OD, et al.
BMC Musculoskelet Disord. 2016 Feb 15;17:79. doi: 10.1186/s12891-016-0935-9.
BMC Musculoskelet Disord. 2016.
PMID: 26875674
Free PMC article.
Review.
FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric d …
FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which …