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.