Article
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
European journal of human genetics : EJHG - 1 Oct 2014
Joshi Mugdha, Eagan Jacqueline, Desai Nirav K, Newton Stephanie A, Towne Meghan C, Marinakis Nicholas S, Esteves Kristyn M, De Ferranti Sarah, Bennett Michael J, McIntyre Adam, Beggs Alan H, Berry Gerard T, Agrawal Pankaj B
Abstract excerpt
The constellation of clinico-pathological and laboratory findings including massive hepatomegaly, steatosis, and marked hypertriglyceridemia in infancy is extremely rare. We describe a child who is presented with the above findings, and despite extensive diagnostic testing no cause could be identified. Whole exome sequencing was performed on the patient and parents' DNA. Mutations in GPD1 encoding...
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