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

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

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

Autor(en):

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

Erschienen in:

Journal of Clinical Investigation (2020), Bd. 130, H. 8, S. 4423-4439

Verlagsangabe:

Amer Soc Clinical Investigation Inc

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1172/JCI131656

ISSN:

1558-8238