Steel HH et al. A syndrome of dislocated hips and radial heads, carpal coalition, and short stature in Puerto Rican children. J Bone Joint Surg Am. 1993;75(2):259-264. PMID: 8423186.
Flynn JM et al. Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features. J Pediatr Orthop. 2010;30:282-288,. PMID: 20357596.
Gonzaga-Jauregui C. et al. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015;23(3):342-346. PMID: 24986830.
Kotabagi S. et al. Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. Clin Genet. 2017;92:323-326. PMID: 28276056.
Gariballa, N. 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;173(5):1257-1263. PMID: 28322503.
Belbin GM. et al. Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system. ELife. 2017;6:e25060. PMID: 28895531.