• A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
• Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
• Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome
• High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis
• Mutational Spectrum, Ocular and Olfactory Phenotypes of <em>CNGB1</em>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort
• Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome
• Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings
• Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome
• Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?
• The heredity of heredofamilial syndromes. Retinitis pigmentosa of drug origin and following viral diseases
• The microphthalmia-retinitis pigmentosa-glaucoma syndrome