Publication | Open Access

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Genetic DiseasesBardet–biedl Syndrome GenesGenetic DisorderMedicineGeneticsPathologyHeterogeneous DiseaseMolecular GeneticsDisease Gene IdentificationMolecular DiagnosticsPrivate MutationsMonogenic Disorders