Publication | Open Access

Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

UrologySix1 MutationsMendelian DisorderBranchio–oto–renal SyndromeGenetic DisorderGeneticsRenal PathologyGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene IdentificationGenomicsMedicineDanish FamiliesClinical Genetics