Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome

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Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O. Am J Hum Genet.2008;82:1334-1341.