Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
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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