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Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B

Genetic spectrum of retinal dystrophies in Tunisia

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopietic dysfunction

A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23