NPHP4 and ciliopathy: 2005; Schaefer et al. 2011; Won et al. 2011; Patil et al. 2012). Mutations in NPHP4 have been associated with related ciliopathies such as NPH (Mollet et al. 2002; Hoefele et al. 2004) and SLS (Otto et al. 2002; Schuermann et al. 2002).