Publication | Open Access

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

Ocular DiseaseMendelian DisorderOphthalmologyGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyJoubert Syndrome-affected PatientRetinal ImpairmentMedicineNovel Arl13b Variant