Nephronophthisis, NGS


Diagnose nephronophthisis genetically; management of progressive kidney disease.
Genelist (36): ADAMTS9, AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, IFT172, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, SLC41A1, TCTN1, TMEM138, TMEM216, TMEM237, TMEM67, TRAF3IP1, TTC21B, WDR19, WDR19, WDR35, XPNPEP3, ZNF423