Mutations in human homologue of chickentalpid3gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes-Reference-Cited by-同舟云学术

Mutations in human homologue of chickentalpid3gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

Published:2015-09-18 Issue:12 Volume:52 Page:830-839
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Malicdan May Christine V,Vilboux Thierry,Stephen Joshi,Maglic Dino,Mian Luhe,Konzman Daniel,Guo Jennifer,Yildirimli Deniz,Bryant Joy,Fischer Roxanne,Zein Wadih M,Snow Joseph,Vemulapalli Meghana,Mullikin James C,Toro Camilo,Solomon Benjamin D,Niederhuber John E,Gahl William A,Gunay-Aygun Meral,

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference30 articles.

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3. Expression of ptc and gli genes in talpid3 suggests bifurcation in Shh pathway;Lewis;Development,1999

4. The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation;Yin;Development,2009

5. The mechanisms of Hedgehog signalling and its roles in development and disease;Briscoe;Nat Rev Mol Cell Biol,2013

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