Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.09.019
Abstract: Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to play roles in skeletal tissues through its secretion by osteoblasts, chondrocytes,… read more here.
Keywords: cause subtype; mutations fibronectin; corner fractures; fn1 mutations ... See more keywords
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
Sign Up to like & getrecommendations! Published in 2019 at "Bone"
DOI: 10.1016/j.bone.2018.12.020
Abstract: Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some individuals affected by spondylometaphyseal dysplasia with "corner fractures" (SMD-CF). The most striking… read more here.
Keywords: spondylometaphyseal dysplasia; dysplasia corner; bone; corner fractures ... See more keywords