Lieber, Daniel S, Steven G Hershman, Nancy G Slate, Sarah E Calvo, Katherine B Sims, Jeremy D Schmahmann, and Vamsi K Mootha. 2014. “Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.” BMC Medical Genetics 15 (1): 30. doi:10.1186/1471-2350-15-30. http://dx.doi.org/10.1186/1471-2350-15-30.