Article
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
International journal of molecular sciences - 24 Nov 2022
Ziccardi Lucia, Niceta Marcello, Stellacci Emilia, Ciolfi Andrea, Tatti Massimo, Bruselles Alessandro, Mancini Cecilia, Barbano Lucilla, Cecchetti Serena, Costanzo Eliana, Cappa Marco, Parravano Mariacristina, Varano Monica, Tartaglia Marco, Cordeddu Viviana
Abstract excerpt
Inherited retinal degeneration (IRD) represents a clinically variable and genetically heterogeneous group of disorders characterized by photoreceptor dysfunction. These diseases typically present with progressive severe vision loss and variable onset, ranging from birth to adulthood. Genomic sequencing has allowed to identify novel IRD-related genes, most of which encode proteins contributing to...
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