An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.
European Journal Of Human Genetics : Ejhg
Rawlins, Lettie E LE; Jones, Hannah H; Wenger, Olivia O; Aye, Myat M; Fasham, James J; Harlalka, Gaurav V GV; Chioza, Barry A BA; Miron, Alexander A; Ellard, Sian S; Wakeling, Matthew M; Crosby, Andrew H AH; Baple, Emma L EL