Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2-Reference-Cited by-同舟云学术

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2

Published:2015-01-15 Issue:4 Volume:60 Page:199-202
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Sergouniotis Panagiotis I,Urquhart Jill E,Williams Simon G,Bhaskar Sanjeev S,Black Graeme C,Lovell Simon C,Whitby David J,Newman William G,Clayton-Smith Jill

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2014122.pdf

Reference9 articles.

1. Beby, F. . & Lamonerie, T. The homeobox gene Otx2 in development and disease. Exp. Eye Res. 111, 9–16 (2013).

2. Roger, J. E., Hiriyanna, A., Gotoh, N., Hao, H., Cheng, D. F. . & Ratnapriya, R. et al. OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. J. Clin. Invest. 124, 631–643 (2014).

3. Williamson, K. A. . & FitzPatrick, D. R. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur. J. Med. Genet. 57, 369–380 (2014).

4. Zielinski, D., Markus, B., Sheikh, M., Gymrek, M., Chu, C. . & Zaks, M. et al. OTX2 duplication is implicated in hemifacial microsomia. PLoS ONE 9, e96788 (2014).

5. Chassaing, N., Sorrentino, S., Davis, E. E., Martin-Coignard, D., Iacovelli, A. . & Paznekas, W. et al. OTX2 mutations contribute to the otocephaly-dysgnathia complex. J. Med. Genet. 49, 373–379 (2012).

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