Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability-Reference-Cited by-同舟云学术

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

Published:2013-05-22 Issue:1 Volume:22 Page:52-56
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Vincent Marie,Collet Corinne,Verloes Alain,Lambert Laetitia,Herlin Christian,Blanchet Catherine,Sanchez Elodie,Drunat Séverine,Vigneron Jacqueline,Laplanche Jean-Louis,Puechberty Jacques,Sarda Pierre,Geneviève David

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201398.pdf

Reference18 articles.

1. The Treacher Collins Syndrome Collaborative Group: Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 1996; 12: 130–136.

2. Dauwerse JG, Dixon J, Seland S et al: Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2011; 43: 20–22.

3. Beygo J, Buiting K, Seland S et al: First report of a single exon deletion in TCOF1 causing Treacher Collins syndrome. Mol Syndromol 2012; 2: 53–59.

4. Bowman M, Oldridge M, Archer C et al: Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome. Eur J Hum Genet 2012; 20: 769–777.

5. Lines MA, Huang L, Schwartzentruber J et al: Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet 2012; 90: 369–377.

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