Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

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Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Author: Latour, Brooke L.; Van de Weghe, Julie C.; Rusterholz, Tamara D. S.; Letteboer, Stef J. F.; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E.; van Reeuwijk, Jeroen; van Beersum, Sylvia E. C.; Miller, Caitlin, V; Dempsey, Jennifer C.; Morsy, Heba; Bamshad, Michael J.; Nickerson, Deborah A.; Neuhauss, Stephan C. F.; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A.; Alkuraya, Fowzan S.; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan
Tübinger Autor(en):
Boldt, Karsten
Ueffing, Marius
Published in: Journal of Clinical Investigation (2020), Bd. 130, H. 8, S. 4423-4439
Verlagsangabe: Amer Soc Clinical Investigation Inc
Language: English
Full text: http://dx.doi.org/10.1172/JCI131656
ISSN: 1558-8238
DDC Classifikation: 610 - Medicine and health
Dokumentart: Article
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