Biallelic Mutations in < b > < i > DNAJB11 < /i > < /b > are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

This study reveals thatDNAJB11 biallelic mutations may cause an antenatal severe form of ARPKD and contributes to understanding theDNAJB11-related ADPKD phenotype. The possibility of ARPKD due to biallelic mutations in ADPKD genes should be considered in genetic counseling.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research