IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype-Reference-Cited by-同舟云学术

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

Published:2015-08-14 Issue:10 Volume:52 Page:657-665
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Perrault Isabelle,Halbritter Jan,Porath Jonathan D,Gérard Xavier,Braun Daniela A,Gee Heon Yung,Fathy Hanan M,Saunier Sophie,Cormier-Daire Valérie,Thomas Sophie,Attié-Bitach Tania,Boddaert Nathalie,Taschner Michael,Schueler Markus,Lorentzen Esben,Lifton Richard P,Lawson Jennifer A,Garfa-Traore Meriem,Otto Edgar A,Bastin Philippe,Caillaud Catherine,Kaplan Josseline,Rozet Jean-Michel,Hildebrandt Friedhelm

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Architecture and function of IFT complex proteins in ciliogenesis;Taschner;Differentiation,2012

2. Ciliary disorder of the skeleton;Huber;Am J Med Genet C Semin Med Genet,2012

3. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy;Beales;Nat Genet,2007

4. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans;Halbritter;Am J Hum Genet,2013

5. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome;Aldahmesh;Hum Mol Genet,2014

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