Biallelic Inactivating TUB 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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9740599/
https://www.ncbi.nlm.nih.gov/pubmed/36498982
http://dx.doi.org/10.3390/ijms232314656

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9740599/
https://www.ncbi.nlm.nih.gov/pubmed/36498982
http://dx.doi.org/10.3390/ijms232314656

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