Mutations in CSPP1 Lead to Classical Joubert Syndrome-Reference-Cited by-同舟云学术

Mutations in CSPP1 Lead to Classical Joubert Syndrome

Published:2014-01 Issue:1 Volume:94 Page:80-86
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Akizu Naiara,Silhavy Jennifer L.,Rosti Rasim Ozgur,Scott Eric,Fenstermaker Ali G.,Schroth Jana,Zaki Maha S.,Sanchez Henry,Gupta Neerja,Kabra Madhulika,Kara Majdi,Ben-Omran Tawfeg,Rosti Basak,Guemez-Gamboa Alicia,Spencer Emily,Pan Roger,Cai Na,Abdellateef Mostafa,Gabriel Stacey,Halbritter Jan,Hildebrandt Friedhelm,van Bokhoven Hans,Gunel Murat,Gleeson Joseph G.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation;Maria;J. Child Neurol.,1997

2. Genotypes and phenotypes of Joubert syndrome and related disorders;Valente;Eur. J. Med. Genet.,2008

3. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders;Sattar;Dev. Med. Child Neurol.,2011

4. The primary cilium: a signalling centre during vertebrate development;Goetz;Nat. Rev. Genet.,2010

5. Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells;Sorokin;J. Cell Biol.,1962

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