Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewed
Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome
Riccardo Sangermano, Iris Deitch, Virginie G. Peter…·Kinga M. Bujakowska
The paper identifies INPP5E variants in non-syndromic retinal degenerations, expanding the known phenotypic spectrum of this ciliary gene.
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