Ontology highlight
ABSTRACT:
SUBMITTER: Dhaliwal A
PROVIDER: S-EPMC8943104 | biostudies-literature | 2022 Mar
REPOSITORIES: biostudies-literature
Dhaliwal Armaan A Ravi Soumiya S Bains Kanwal K Potharaju Anil Kumar AK Shah Tasneem T
Clinical case reports 20220323 3
A patient with a history of Mandibular hypoplasia, Deafness, Progeroid Features Associated Lipodystrophy Syndrome (MDPL), familial lipodystrophy presented with hypertriglyceridemia induced pancreatitis with triglycerides in the 3000s. This lipodystrophy occurs due to a mutation in the POLD1 gene (DNA polymerase delta 1). MDPL, hypertriglyceridemia, pancreatitis, POLD1. ...[more]