A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations
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DOI: 10.1002/mgg3.902
Abstract: Jalili syndrome (JS) is a rare cone‐rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical presentation of JS patients was published in 1988 by Jalili and Smith. Pathogenic mutations in the Cyclin and… read more here.
Keywords: pathogenic missense; jalili syndrome; novel pathogenic; variant cnnm4 ... See more keywords