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Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ. Tukel T, et al. Am J Hum Genet. 2010 Aug 13;87(2):289-96. doi: 10.1016/j.ajhg.2010.07.009. Am J Hum Genet. 2010. PMID: 20691403 Free PMC article.