TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to extracellular signals. T...

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Bibliographic Details
Published in:HGG Adv
Main Authors: Van De Weghe, Julie C., Giordano, Jessica L., Mathijssen, Inge B., Mojarrad, Majid, Lugtenberg, Dorien, Miller, Caitlin V., Dempsey, Jennifer C., Mohajeri, Mahsa Sadat Asl, van Leeuwen, Elizabeth, Pajkrt, Eva, Klaver, Caroline C.W., Houlden, Henry, Eslahi, Atieh, Waters, Aoife M., Bamshad, Michael J., Nickerson, Deborah A., Aggarwal, Vimla S., de Vries, Bert B.A., Maroofian, Reza, Doherty, Dan
Format: Artigo
Language:Inglês
Published: Elsevier 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8009330/
https://ncbi.nlm.nih.gov/pubmed/33791682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.xhgg.2020.100016
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