Hypomorphic mutations in meckelin (<i>MKS3/TMEM67</i>) cause nephronophthisis with liver fibrosis (NPHP11)

Abstract

Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders.