Alström syndrome - An uncommon cause of early childhood retinal dystrophy

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dc.contributor.author Sheck, Hei en
dc.contributor.author Al-Taie, R en
dc.contributor.author Sharp, D en
dc.contributor.author Vincent, Andrea en
dc.date.accessioned 2012-03-12T00:49:13Z en
dc.date.issued 2011 en
dc.identifier.citation BMJ Case Reports 3 pages 2011 en
dc.identifier.issn 1757-790X en
dc.identifier.uri http://hdl.handle.net/2292/13795 en
dc.description.abstract Alström syndrome (AS) is a ciliopathy and an uncommon cause of syndromic retinal dystrophy. This case reports findings in a 5-year-old boy with severe early onset retinal dystrophy, and how the recognition of extraocular features with genetic analysis led to the correct diagnosis of AS after 4 years of investigation. en
dc.publisher BMJ Publishing Group Ltd. en
dc.relation.ispartofseries BMJ Case Reports en
dc.rights Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher. Details obtained from http://www.sherpa.ac.uk/romeo/issn/1757-790X/ en
dc.rights.uri https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm en
dc.title Alström syndrome - An uncommon cause of early childhood retinal dystrophy en
dc.type Journal Article en
dc.identifier.doi 10.1136/bcr.06.2011.4388 en
dc.rights.holder Copyright: BMJ Publishing Group Ltd. en
dc.identifier.pmid 22688943 en
dc.rights.accessrights http://purl.org/eprint/accessRights/RestrictedAccess en
pubs.subtype Article en
pubs.elements-id 232782 en
pubs.org-id Medical and Health Sciences en
pubs.org-id School of Medicine en
pubs.org-id Ophthalmology Department en
dc.identifier.eissn 1757-790X en
pubs.record-created-at-source-date 2012-03-09 en
pubs.dimensions-id 22688943 en


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