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Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

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. Green open access

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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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