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Gonzaga-Jauregui, Claudia, Candace N. Gamble, Bo Yuan, Samantha Penney, Shalini Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, and Jacqueline T. Hecht. "Mutations in COL27A1 Cause Steel Syndrome and Suggest a Founder Mutation Effect in the Puerto Rican Population." Eur J Hum Genet 2015.

Gonzaga-Jauregui, Claudia, et al. "Mutations in COL27A1 Cause Steel Syndrome and Suggest a Founder Mutation Effect in the Puerto Rican Population." Eur J Hum Genet 2015.