| http://purl.uniprot.org/citations/15217518 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15217518 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundTriple-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.Case presentationWe present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features, including: accommodative spasm, dry eye, superficial punctate keratopathy, and pupillary hypersensitivity to dilute pilocarpine. MRI showed small lacrimal glands bilaterally. DNA sequencing of PCR-amplified fragments from the 16 exons of the AAAS gene revealed compound heterozygosity for a new, out-of-frame 5-bp deletion in exon 15, c1368-1372delGCTCA, and a previously-described nonsense mutation in exon 9, c938C>T, R286X.ConclusionsIn addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction."xsd:string |
| http://purl.uniprot.org/citations/15217518 | http://purl.org/dc/terms/identifier | "doi:10.1186/1471-2415-4-7"xsd:string |
| http://purl.uniprot.org/citations/15217518 | http://purl.uniprot.org/core/author | "Kleta R."xsd:string |
| http://purl.uniprot.org/citations/15217518 | http://purl.uniprot.org/core/author | "Stratakis C.A."xsd:string |
| http://purl.uniprot.org/citations/15217518 | http://purl.uniprot.org/core/author | "Brooks B.P."xsd:string |
| http://purl.uniprot.org/citations/15217518 | http://purl.uniprot.org/core/author | "Caruso R.C."xsd:string |
| http://purl.uniprot.org/citations/15217518 | http://purl.uniprot.org/core/author | "Stuart C."xsd:string |
| http://purl.uniprot.org/citations/15217518 | http://purl.uniprot.org/core/author | "Ludlow J."xsd:string |
| http://purl.uniprot.org/citations/15217518 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15217518 | http://purl.uniprot.org/core/name | "BMC Ophthalmol"xsd:string |
| http://purl.uniprot.org/citations/15217518 | http://purl.uniprot.org/core/pages | "7"xsd:string |
| http://purl.uniprot.org/citations/15217518 | http://purl.uniprot.org/core/title | "Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report."xsd:string |
| http://purl.uniprot.org/citations/15217518 | http://purl.uniprot.org/core/volume | "4"xsd:string |
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