Joubert syndrome, NGS
Detect mutations causing Joubert syndrome; genetic diagnosis and family counseling.
Genelist (46): AHI1, ARL3, ARL13B, ARMC9, B9D1, B9D2, CFAP410, CPLANE1, C2CD3, CC2D2A, CEP104, CEP120, CEP164, CEP290, CEP41, CPLANE1, CSPP1, FAM149B1, IFT74, IFT172, INPP5E, KATNIP, KIAA0586, KIAA0753, KIF7, MKS1, NPHP1, OFD1, PDE6D, POC1B, PIBF1, SUFU, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOGARAM1, TTC21B, ZNF423
Featured Review
Detect mutations causing Joubert syndrome; genetic diagnosis and family counseling.
Genelist (46): AHI1, ARL3, ARL13B, ARMC9, B9D1, B9D2, CFAP410, CPLANE1, C2CD3, CC2D2A, CEP104, CEP120, CEP164, CEP290, CEP41, CPLANE1, CSPP1, FAM149B1, IFT74, IFT172, INPP5E, KATNIP, KIAA0586, KIAA0753, KIF7, MKS1, NPHP1, OFD1, PDE6D, POC1B, PIBF1, SUFU, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOGARAM1, TTC21B, ZNF423