Di Gioia SA, Shaaban S, Tuysuz B, et al. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. Am J Hum Genet. 2018;103(1):115-124. doi:10.1016/j.ajhg.2018.05.003
Dauber A, Stoler J, Hechter E, Safer J, Hirschhorn JN. Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. J Pediatr. 2013;162(1):202-4.e1. doi:10.1016/j.jpeds.2012.07.055
Karaca E, Yuregir OO, Bozdogan ST, et al. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015;167A(11):2795-9. doi:10.1002/ajmg.a.37263
Bulman MP, Kusumi K, Frayling TM, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet. 2000;24(4):438-41. doi:10.1038/74307