Publication | Open Access

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Developmental BiologyMendelian DisorderGenetic DisorderRetinitis PigmentosaGeneticsPathogenesisType 2Molecular GeneticsLong IsoformDisease Gene IdentificationMedicineNeurogenetics