Brooks, BP;
Kleta, R;
Caruso, RC;
Stuart, C;
Ludlow, J;
Stratakis, CA;
(2004)
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
BMC Ophthalmology
, 4
, Article 7. 10.1186/1471-2415-4-7.
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Abstract
Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13.
| Type: | Article |
|---|---|
| Title: | Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1186/1471-2415-4-7 |
| Publisher version: | http://dx.doi.org/10.1186/1471-2415-4-7 |
| Language: | English |
| Additional information: | © 2004 Brooks et al; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL. |
| Keywords: | Accommodation, Ocular, Adrenal Insufficiency, Adrenocorticotropic Hormone, Autonomic Nervous System Diseases, Child, Dry Eye Syndromes, Esophageal Achalasia, Esotropia, Humans, Magnetic Resonance Imaging, Male, Mutation, Nerve Tissue Proteins, Nuclear Pore Complex Proteins, Ocular Motility Disorders, Polymerase Chain Reaction, Proteins, Pupil Disorders, Syndrome |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine |
| URI: | https://discovery.ucl.ac.uk/id/eprint/737912 |
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