Condition: BARDET-BIEDL SYNDROME 16
rs397515337
in
SDCCAG8
gene and
BARDET-BIEDL SYNDROME 16
PMID 22190896
2011 Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.
PMID 20835237
2010 Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.