Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA.
Manzini MC, et al.
Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009.
Am J Hum Genet. 2012.
PMID: 22958903
Free PMC article.