Do hypomorphic mutations in meckelin ( MKS3/TMEM67 ) cause nephronophthisis with liver fibrosis ( NPHP11 )?
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.
Psychological impairments are evident in people with knee osteoarthritis following anterior cruciate ligament reconstruction, compared to those without. Future studies should further investigate the psychological impairments associated with knee osteoarthritis after anterior cruciate ligament reconstruction.