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Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies

Ciliopathies are heterogeneous genetic diseases affecting primary cilium structure and function. Meckel-Gruber (MKS) and Bardet-Biedl (BBS) syndromes are severe ciliopathies characterized by skeletal and neurodevelopment anomalies, including polydactyly, cognitive impairment, and retinal degeneratio...

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Detalles Bibliográficos
Autores principales: Barabino, Andrea, Flamier, Anthony, Hanna, Roy, Héon, Elise, Freedman, Benjamin S., Bernier, Gilbert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066374/
https://www.ncbi.nlm.nih.gov/pubmed/32160518
http://dx.doi.org/10.1016/j.stemcr.2020.02.005