Partial USH2A deletions contribute to Usher syndrome in Denmark-Reference-Cited by-同舟云学术

Partial USH2A deletions contribute to Usher syndrome in Denmark

Published:2015-03-25 Issue:12 Volume:23 Page:1646-1651
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Dad Shzeena,Rendtorff Nanna D,Kann Erik,Albrechtsen Anders^ORCID,Mehrjouy Mana M,Bak Mads,Tommerup Niels,Tranebjærg Lisbeth,Rosenberg Thomas,Jensen Hanne,Møller Lisbeth B

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201554.pdf

Reference33 articles.

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3. Spandau UH, Rohrschneider K : Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch Clin Exp Ophthalmol 2002; 240: 495–498.

4. Kimberling WJ, Hildebrand MS, Shearer AE et al: Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med 2010; 12: 512–516.

5. Smith RJ, Berlin CI, Hejtmancik JF et al: Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 1994; 50: 32–38.

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