Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous APOC2 Mutation.
Masako UedaAnna WolskaFrances M BurkeMaria EscobarLaura WaltersDusanka LalicRobert A HegeleAlan T RemaleyDaniel J RaderRichard L DunbarPublished in: Case reports in endocrinology (2020)
Our case demonstrates the importance of delineating and defining the underlying etiology of a rare disorder to optimize therapy and to minimize unfavorable outcomes.