Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity-Reference-Cited by-同舟云学术

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

Published:2014-08-20 Issue:5 Volume:23 Page:621-627
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Thomas Sophie,Cantagrel Vincent,Mariani Laura,Serre Valérie,Lee Ji-Eun,Elkhartoufi Nadia,de Lonlay Pascale,Desguerre Isabelle,Munnich Arnold,Boddaert Nathalie,Lyonnet Stanislas,Vekemans Michel,Lisgo Steven N,Caspary Tamara,Gleeson Joseph,Attié-Bitach Tania

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014156.pdf

Reference33 articles.

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2. Valente EM, Dallapiccola B, Bertini E : Joubert syndrome and related disorders. Handb Clin Neurol 2013; 113: 1879–1888.

3. Badano JL, Mitsuma N, Beales PL, Katsanis N : The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006; 7: 125–148.

4. Millen KJ, Gleeson JG : Cerebellar development and disease. Curr Opin Neurobiol 2008; 18: 12–19.

5. Huangfu D, Liu A, Rakeman AS, Murcia NS, Niswander L, Anderson KV : Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature 2003; 426: 83–87.

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