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A missense mutation in CASK causes FG syndrome in an Italian family.
Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V. Piluso G, et al. Among authors: rotundo il. Am J Hum Genet. 2009 Feb;84(2):162-77. doi: 10.1016/j.ajhg.2008.12.018. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200522 Free PMC article.