• A postaxial polydactyly and progressive myopia syndrome of autosomal dominant origin
• Bardet-Biedl syndrome-7 (<em>BBS7</em>) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model
• Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model
• Dental Anomalies in Ciliopathies: Lessons from Patients with <em>BBS2</em>, <em>BBS7,</em> and <em>EVC2</em> Mutations
• Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report
• IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration
• Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)
• Novel variant syndrome associated with congenital hepatic fibrosis
• Polydactyly-Myopia Syndrome: Genetic and Ophthalmologic Perspectives
• Post-axial polydactyly-progressive myopia syndrome of dominant heredity
• Sjogren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity