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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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Τόπος έκδοσης:	HGG Adv
Κύριοι συγγραφείς:	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
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Elsevier 2020
Θέματα:	Article
Διαθέσιμο Online:	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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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

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