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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.