Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis-Reference-Cited by-同舟云学术

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Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis

Published:2010-01-20 Issue:6 Volume:18 Page:674-679
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Sparrow Duncan B,Sillence David,Wouters Merridee A,Turnpenny Peter D,Dunwoodie Sally L

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2009241.pdf

Reference19 articles.

1. Turnpenny PD, Alman B, Cornier AS et al: Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn 2007; 236: 1456–1474.

2. Bulman MP, Kusumi K, Frayling TM et al: Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet 2000; 24: 438–441.

3. Sparrow DB, Clements M, Withington SL et al: Diverse requirements for Notch signalling in mammals. Int J Dev Biol 2002; 46: 365–374.

4. Whittock NV, Sparrow DB, Wouters MA et al: Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet 2004; 74: 1249–1254.

5. Sparrow DB, Chapman G, Wouters MA et al: Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet 2006; 78: 28–37.

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