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Boston type craniosynostosis: report of a second mutation in MSX2.
Florisson JM, Verkerk AJ, Huigh D, Hoogeboom AJ, Swagemakers S, Kremer A, Heijsman D, Lequin MH, Mathijssen IM, van der Spek PJ. Florisson JM, et al. Am J Med Genet A. 2013 Oct;161A(10):2626-33. doi: 10.1002/ajmg.a.36126. Epub 2013 Aug 15. Am J Med Genet A. 2013. PMID: 23949913
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
Florisson JM, Mathijssen IM, Dumee B, Hoogeboom JA, Poddighe PJ, Oostra BA, Frijns JP, Koster L, de Klein A, Eussen B, de Vries BB, Swagemakers S, van der Spek PJ, Verkerk AJ. Florisson JM, et al. Am J Med Genet A. 2013 Feb;161A(2):244-53. doi: 10.1002/ajmg.a.35632. Epub 2013 Jan 9. Am J Med Genet A. 2013. PMID: 23303641
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