Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome-Reference-Cited by-同舟云学术

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Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome

Published:2012-02-08 Issue:7 Volume:20 Page:769-777
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bowman Michael,Oldridge Michael,Archer Caroline,O'Rourke Anthony,McParland Joanna,Brekelmans Roel,Seller Anneke,Lester Tracy

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg20122.pdf

Reference36 articles.

1. Splendore A, Jabs EW, Passos-Bueno MR : Screening of TCOF1 in patients from different populations: confirmation of mutational hotspots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. J Med Genet 2002; 39: 493–495.

2. Teber OA, Gillessen-Kaesbach G, Fischer S et al: Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 2004; 12: 879–890.

3. The Treacher Collins Syndrome Collaborative Group, Dixon J, Edwards SJ et al: Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 1996; 12: 130–136.

4. So RB, Gonzales B, Henning D, Dixon J, Dixon MJ, Valdez BC : Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene 2004; 328: 49–57.

5. Wise CA, Chiang LC, Paznekas WA et al: TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci USA 1997; 94: 3110–3115.

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