Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome-Reference-Cited by-同舟云学术

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Published:2008-03-09 Issue:4 Volume:40 Page:443-448
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Leitch Carmen C,Zaghloul Norann A,Davis Erica E,Stoetzel Corinne,Diaz-Font Anna,Rix Suzanne,Alfadhel Majid,Lewis Richard Alan,Eyaid Wafaa,Banin Eyal,Dollfus Helene,Beales Philip L,Badano Jose L,Katsanis Nicholas

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.97.pdf

Reference28 articles.

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2. Dawe, H.R. et al. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Mol. Genet. 16, 173–186 (2007).

3. Delous, M. et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat. Genet. 39, 875–881 (2007).

4. Kyttala, M. et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat. Genet. 38, 155–157 (2006).

5. Smith, U.M. et al. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat. Genet. 38, 191–196 (2006).

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