Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus

Por Ruggeri, Gaia, Timms, Andrew E., Cheng, Chi, Weiss, Avery, Kollros, Peter, Chapman, Teresa, Tully, Hannah, Mirzaa, Ghayda M.
Publicado no Am J Med Genet A (2018)