Condition: Decreased serum ceruloplasmin


rs1557196978 in ATP6AP1 gene and Decreased serum ceruloplasmin PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs267606959 in POLG gene and Decreased serum ceruloplasmin PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.

PMID 20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.