Waardenburg syndrome: more common than you think!

医学 耳鼻喉 喉部 基础(证据) 鼻子 图书馆学 外科 考古 历史 计算机科学
作者
Akhtar Zaman,Ruth Capper,W. Baddoo
出处
期刊:Clinical Otolaryngology [Wiley]
卷期号:40 (1): 44-48 被引量:36
标识
DOI:10.1111/coa.12312
摘要

Clinical OtolaryngologyVolume 40, Issue 1 p. 44-48 Correspondence: Our Experience Waardenburg syndrome: more common than you think! A. Zaman, Corresponding Author A. Zaman Ear, Nose and Throat Department, Doncaster and Bassetlaw NHS Foundation Trust, Doncaster, UKCorrespondence: A. Zaman, Flat 112, The Whitehouse Apartment, 9, Belvedere Road, London SE1 8YP, UK. Tel.: +44863117046; Fax: 01302 647276; e-mail: [email protected]Search for more papers by this authorR. Capper, R. Capper Ear, Nose and Throat Department, Doncaster and Bassetlaw NHS Foundation Trust, Doncaster, UKSearch for more papers by this authorW. Baddoo, W. Baddoo Ear, Nose and Throat Department, Doncaster and Bassetlaw NHS Foundation Trust, Doncaster, UKSearch for more papers by this author A. Zaman, Corresponding Author A. Zaman Ear, Nose and Throat Department, Doncaster and Bassetlaw NHS Foundation Trust, Doncaster, UKCorrespondence: A. Zaman, Flat 112, The Whitehouse Apartment, 9, Belvedere Road, London SE1 8YP, UK. Tel.: +44863117046; Fax: 01302 647276; e-mail: [email protected]Search for more papers by this authorR. Capper, R. Capper Ear, Nose and Throat Department, Doncaster and Bassetlaw NHS Foundation Trust, Doncaster, UKSearch for more papers by this authorW. Baddoo, W. Baddoo Ear, Nose and Throat Department, Doncaster and Bassetlaw NHS Foundation Trust, Doncaster, UKSearch for more papers by this author First published: 09 September 2014 https://doi.org/10.1111/coa.12312Citations: 23Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1Wang J., Li S., Xiao X. et al. (2010) PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. Mol. Vis. 16, 1146–1153 CASWeb of Science®Google Scholar 2Pingault V., Ente D., Dastot-Le M.F. et al. (2010) Review and update of mutations causing Waardenburg syndrome. Hum. Mutat. 31, 391–406 10.1002/humu.21211 CASPubMedWeb of Science®Google Scholar 3Charrow J. (2007) Different colored eyes. Waardenburg syndrome. Pediatr. Ann. 36, 277–278 10.3928/0090-4481-20070501-13 PubMedWeb of Science®Google Scholar 4Read A.P. & Newton V.E. (1997) Waardenburg syndrome. J. Med. Genet. 34, 656–665 10.1136/jmg.34.8.656 CASPubMedWeb of Science®Google Scholar 5Mehta M., Sethi S., Pushker N. et al. (2010) Delayed presentation of children with Waardenburg syndrome. J. Pediatr. Ophthalmol. Strabismus 47, 382–383 10.3928/01913913-20101104-07 PubMedWeb of Science®Google Scholar 6Nayak C.S. & Isaacson G. (2003) Worldwide distribution of Waardenburg syndrome. Ann. Otol. Rhinol. Laryngol. 112, 817–820 10.1177/000348940311200913 PubMedWeb of Science®Google Scholar 7 Genetics Home Reference – A service of the U.S. National Library of Medicine. Genetics of Waardenburg Syndrome [Online]. (2006) http://ghr.nlm.nih.gov/condition/waardenburg-syndrome [accessed on 9 January 2012] Google Scholar 8Milunsky J.M. (2009) Waardenburg syndrome type 1. In Gene Reviews, R.A. Pagon, T.D. Bird & C.R. Dolan et al. (eds), University of Washington, Seattle. [Online] http://www.ncbi.nlm.nih.gov/books/NBK1531 [accessed on 20 January 2012] Google Scholar 9Kiani R., Gangadharan S.K. & Miller H. (2007) Case report: association of waardenburg syndrome with intellectual disability, autistic spectrum disorder and unprovoked aggressive outbursts: a new behavioural phenotype? Br. J. Dev. Disabil. 53, 53–62 10.1179/096979507799103478 Web of Science®Google Scholar 10Edery P., Attie T., Amiel J. et al. (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat. Genet. 12, 442–444 10.1038/ng0496-442 CASPubMedWeb of Science®Google Scholar 11 National Health Service United Kingdom Genetic Testing Network [Online] http://www.ukgtn.nhs.uk/gtn/Search+for+a+Test/Search+by+Disease+or+Gene [accessed on 9 January 2012] Google Scholar Citing Literature Volume40, Issue1February 2015Pages 44-48 ReferencesRelatedInformation
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