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The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene

Peter, Virginie, Mathieu Quinodoz, Jorge Pinto-Basto, Sergio Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, et al. 2019. “The Liberfarb Syndrome, a Multisystem Disorder Affecting Eye, Ear, Bone, and Brain Development, Is Caused by a Founder Pathogenic Variant in ThePISD Gene”. Genet Med 21 (12): 2734-43.