Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

C, Dafinger; MC, Liebau; SM, Elsayed; Y, Hellenbroich; E, Boltshauser; GC, Korenke; F, Fabretti; AR, Janecke; I, Ebermann; G, Nürnberg; P, Nürnberg; H, Zentgraf; F, Koerber; K, Addicks; E, Elsobky; T, Benzing; B, Schermer; HJ, Bolz

doi:10.1172/jci43639

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Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

Published in The Journal of clinical investigation • Jul 1, 2011

Authors:

Dafinger C

Liebau MC

Elsayed SM

Abstract

Joubert syndrome (JBTS) is characterized by a specific brain malformation with various additional pathologies. It results from mutations in any one of at least 10 different genes, including NPHP1, which encodes nephrocystin-1. JBTS has been linked to dysfunction of primary cilia, since the gene prod...

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