Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V

A missense mutation in CASK causes FG syndrome in an Italian family.

Am J Hum Genet 84:162-77 (2009)
DOI:10.1016/j.ajhg.2008.12.018

Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

Nat Genet 40:1065-7 (2008)
DOI:10.1038/ng.194