Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W.
Nat Genet. 2006 Oct;38(10):1192-7. doi: 10.1038/ng1876. Epub 2006 Sep 17.PMID: 16980979