title: Understanding disease pleiotropy: From puzzle to solution.
abstract: The total amount of functional mutant protein produced by cells underpins disease pleiotropy in the ciliopathies.
authors.affiliation: Laboratory of Genetics in Ophthalmology, INSERM UMR1163, Institute of Genetic Diseases, 75015 Paris, France. Paris Descartes University-Sorbonne Paris Cité, 75015 Paris, France. jean-michel.rozet@inserm.fr.
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet
authors.affiliation: Laboratory of Genetics in Ophthalmology, INSERM UMR1163, Institute of Genetic Diseases, 75015 Paris, France. Paris Descartes University-Sorbonne Paris Cité, 75015 Paris, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Gérard
mesh_terms: D004194:Disease / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D058685:Genetic Pleiotropy; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic