Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies
Di Gioia, Silvio Alessandro, Sherin Shaaban, Beyhan Tüysüz, Nursel Elcioglu, Wai-Man Chan, Caroline Robson, Kirsten Ecklund, et al. 2018. “Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies”. Am J Hum Genet 103 (1): 115-24.