Condition: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
rs751527253
in
NPHP3-ACAD11;NPHP3
gene and
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
PMID 18371931
2008 Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
PMID 20007846
2010 Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.
PMID 27894351
2016 Characterizing the morbid genome of ciliopathies.