SEC63 and Isolated polycystic liver disease: In these studies, most of the patients recruited in screening for SEC63 mutations were also PCLD patients with a positive family history or patients with severe and symptomatic PCLD (Davila et al., 2004; Waanders et al., 2006; Waanders et al., 2010; Kleffmann et al., 2012; Wills et al., 2016; Besse et al., 2017).