The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
Alexander J Hamilton, Coralie Bingham, Timothy J McDonald, Paul R Cook, Richard C Caswell, Michael N Weedon, Richard A Oram, Beverley M Shields, Maggie Shepherd, Carol D Inward, Julian P Hamilton-Shield, Jürgen Kohlhase, Sian Ellard, Andrew T Hattersley
Journal of Medical Genetics Mar 2014, 51 (3) 165-169; DOI: 10.1136/jmedgenet-2013-102066