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PubMed (cited) for id: 601707

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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. Twigg SRF, et al. Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236920 Free PMC article.
Mild case of Curry-Jones syndrome.
Thomas ER, Wakeling EL, Goodman FR, Dickinson JC, Hall CM, Brady AF. Thomas ER, et al. Clin Dysmorphol. 2006 Apr;15(2):115-7. doi: 10.1097/01.mcd.0000194406.85052.de. Clin Dysmorphol. 2006. PMID: 16531740
Craniosynostosis update 1987.
Cohen MM Jr. Cohen MM Jr. Am J Med Genet Suppl. 1988;4:99-148. doi: 10.1002/ajmg.1320310514. Am J Med Genet Suppl. 1988. PMID: 3144990 Review.