Steel syndrome
Definition:
References:
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[1]. Claudia Gonzaga-Jauregui, et al. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 Mar;23(3):342-6. [Content Brief]
[2]. John M Flynn, et al. Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features. J Pediatr Orthop. 2010 Apr-May;30(3):282-8. [Content Brief]
[3]. Nesrin Gariballa, et al. A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss. Am J Med Genet A. 2017 May;173(5):1257-1263. [Content Brief]
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