Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants-Reference-Cited by-同舟云学术

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

Published:2018-08-10 Issue:12 Volume:26 Page:1797-1809
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Boczek Nicole J.,Hopp Katharina^ORCID,Benoit Lacey,Kraft Daniel,Cousin Margot A.,Blackburn Patrick R.^ORCID,Madsen Charles D.,Oliver Gavin R.,Nair Asha A.,Na Jie,Bianchi Diana W.,Beek Geoffrey,Harris Peter C.,Pichurin Pavel,Klee Eric W.

Funder

Mayo Clinic

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0222-3.pdf

Reference28 articles.

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2. Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. J Med Genet. 2017;54:371–80.

3. Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol. 2011;26:1039–56.

4. Hoover AN, Wynkoop A, Zeng H, Jia J, Niswander LA, Liu A. C2cd3 is required for cilia formation and Hedgehog signaling in mouse. Development. 2008;135:4049–58.

5. Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Perez V, Shida T, Franco B, et al. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nat Genet. 2014;46:905–11.

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