Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome-Reference-Cited by-同舟云学术

Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome

Published:2014-08-31 Issue:1 Volume:15 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Fenwick Aimee L,Goos Jacqueline AC,Rankin Julia,Lord Helen,Lester Tracy,Hoogeboom A Jeannette M,van den Ouweland Ans MW,Wall Steven A,Mathijssen Irene MJ,Wilkie Andrew OM

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-014-0095-4/fulltext.html

Reference27 articles.

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3. Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA: Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics. 2010, 126: e391-e400. 10.1542/peds.2009-3491.

4. Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A, Johnson D, Wall SA, van der Spek PJ, Mathijssen IMJ, Maxson RE, Twigg SRF, Wilkie AOM: Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet. 2013, 45: 304-307. 10.1038/ng.2531.

5. Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994, 8: 275-279. 10.1038/ng1194-275.

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