Nuzhat, Nafisa 
; Van Schil, Kristof ; Liakopoulos, Sandra ; Bauwens, Miriam ; Rey, Alfredo Dueñas ; Käseberg, Stephan ; Jäger, Melanie ; Willer, Jason R. ; Winter, Jennifer ; Truong, Hanh M. ; Gruartmoner, Nuria ; Van Heetvelde, Mattias ; Wolf, Joachim ; Merget, Robert ; Grasshoff-Derr, Sabine ; Van Dorpe, Jo ; Hoorens, Anne ; Stöhr, Heidi ; Mansard, Luke ; Roux, Anne-Françoise ; Langmann, Thomas ; Dannhausen, Katharina ; Rosenkranz, David ; Wissing, Karl M. ; Van Lint, Michel ; Rossmann, Heidi ; Häuser, Friederike ; Nürnberg, Peter ; Thiele, Holger ; Zechner, Ulrich ; Pearring, Jillian N. ; De Baere, Elfride ; Bolz, Hanno J.
; Van Schil, Kristof ; Liakopoulos, Sandra ; Bauwens, Miriam ; Rey, Alfredo Dueñas ; Käseberg, Stephan ; Jäger, Melanie ; Willer, Jason R. ; Winter, Jennifer ; Truong, Hanh M. ; Gruartmoner, Nuria ; Van Heetvelde, Mattias ; Wolf, Joachim ; Merget, Robert ; Grasshoff-Derr, Sabine ; Van Dorpe, Jo ; Hoorens, Anne ; Stöhr, Heidi ; Mansard, Luke ; Roux, Anne-Françoise ; Langmann, Thomas ; Dannhausen, Katharina ; Rosenkranz, David ; Wissing, Karl M. ; Van Lint, Michel ; Rossmann, Heidi ; Häuser, Friederike ; Nürnberg, Peter ; Thiele, Holger ; Zechner, Ulrich ; Pearring, Jillian N. ; De Baere, Elfride ; Bolz, Hanno J. 
Abstract
Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We found that homozygosity for a truncating variant in CEP162, a centrosome and microtubule-associated protein required for transition zone assembly during ciliogenesis and neuronal differentiation in the retina, caused late-onset ...
Owner only: item control page
Altmetric