ea0039oc7.1 | Oral Communications 7 | BSPED2015
Dias Renuka
, Richens Caitlin
, Astuti Dewi
, Nightingale Peter
, Ayme Segolene
, Lopez de Heredia Miguel
, Maffei Pietro
, McCafferty Susan
, Mlynarski Wojciech
, Nunes Virginia
, Parkinson Kay
, Paquis-Flucklinge Veronique
, Rohayem Julia
, Sinnott Richard
, Tillmann Vallo
, Tranebjaerg Lisbeth
, Barrett Timothy
Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder, characterised by early-onset diabetes and optic atrophy. It is caused by mutations in WFS1.Objective and hypotheses: This study aimed to comprehensively review the natural history of WS in a large cohort of patients from the EURO-WABB registry.Method: Data from EURO-WABB patients with WS was analysed in conjunction with the Leiden Open Variation Data...