A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. - Morgan, Neil V.; Hartley, Jane L.; Setchell, Kenneth D. R.; Simpson, Michael A.; Brown, Rachel; Tee, Louise; Kirkham, Sian; Pasha, Shanaz; Trembath, Richard C.; Maher, Eamonn R.; Gissen, Paul; Kelly, Deirdre A. (Orphanet Journal of Rare Diseases, 2013)