Conference Proceedings
THE HETEROZYGOUS P.R76W HNF4A VARIANT IS ASSOCIATED WITH ATYPICAL AUTOSOMAL DOMINANT DE TONI-FANCONI-DEBRE SYNDROME AND CAN BE DIAGNOSED UTILISING DIAGNOSTIC CLINICAL EXOMIC ANALYSIS
A Mallett, D Mordaunt, S Crafter, S Mctaggart, A Kark, C Patel, J Crawford, K Holman, E Farnsworth, G Ho, H Healy, S Alexander, B Bennetts, M Little, C Simons
NEPHROLOGY | WILEY-BLACKWELL | Published : 2015