FN1-SMDCF

This website provides information on patients with mutations in the Fibronectin 1 (FN1) gene, including clinical data, molecular data, management and research options.

One of the syndromes caused by mutations in the FN1 gene is a multisystem disorder called Spondylometaphyseal dysplasia, corner fracture type (SMDCF) and is characterized by short stature, bone anomalies and waddling gait in childhood. Not all individuals with a mutation in the FN1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the FN1 gene.

Philippe Campeau, MD, Principal Investigator, CHU Sainte Justine, Mother and Child University Hospital, Montreal, Canada, p.campeau@umontreal.ca

Coralie Michaud, MD, University of Montreal, Montreal, Canada, coralie.michaud@umontreal.ca

Jade England, MD, MSc, University of Montreal, Montreal, Canada, jade.england@umontreal.ca

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