Cadoff EB et al. Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia. Clin Genet. 2018 Nov;94(5):429-437. PMID: 30051459.
Costantini A et al. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". Bone. 2019;121:163-171. PMID: 30599297.
England J et al. Spondylometaphyseal Dysplasia, Corner Fracture Type. 2020 Mar 19. In: Adam MP et al editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 32200603.
Lee CS et al. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017;101(5):815-823. PMID: 29100092.
Sabir AH et al. Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1). Clin Dysmorphol. 2021;30(3):154-158. PMID: 33605604.
FN1-SMDCF