Biallelic Inactivating <i>TUB</i> Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium

Biallelic Inactivating <i>TUB</i> Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium

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 sequenc...

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Main Authors: Lucia Ziccardi, Marcello Niceta, Emilia Stellacci, Andrea Ciolfi, Massimo Tatti, Alessandro Bruselles, Cecilia Mancini, Lucilla Barbano, Serena Cecchetti, Eliana Costanzo, Marco Cappa, Mariacristina Parravano, Monica Varano, Marco Tartaglia, Viviana Cordeddu
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:International Journal of Molecular Sciences
Subjects:
inherited retinal degeneration
whole exome sequencing
primary cilium
homozygous splice site variant
Online Access:https://www.mdpi.com/1422-0067/23/23/14656

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