This website provides information on patients with mutations in the COL27A1 gene, including clinical data, molecular data, management and research options.
Mutations in the COL27A1 gene cause a range of skeletal disorders mainly characterized by short stature, bilateral hip dislocations, carpal coalitions and scoliosis.
Not all individuals with a mutation in the COL27A1 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 COL27A1 gene.
Claudia Gonzaga-Jauregui, PhD, Regeneron Genetics Center, Tarrytown, New York, USA, firstname.lastname@example.org