Lisbeth Tranebjærg

Learn More
Wereport the first de novo mutation in the DDP gene in a Dutch 11-year-old boy with deafness and dystonia. Previously reported mutations inthe DDP gene have all been frameshifts/nonsense mutations or(More)
The branchio–oto–renal (BOR) syndrome is an autosomal-dominant disorder characterized by hearing loss, branchial and renal anomalies. BOR is genetically heterogeneous and caused by mutations in EYA1(More)