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Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet J, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O. Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome. The American Journal of Human Genetics. 2008 Jun;82(6):1334–41. doi: 10.1016/j.ajhg.2008.04.014. |