Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations

Abstrakt

Polycystic kidney and hepatic disease with mental retardation was in our family caused by MKS3/TMEM67 gene mutations and is nephronophthisis type 11.

Klíčová slova

• Pediatrics
• Urology
• Nephrology