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 |