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Article

Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene.

Cornea - 1 Jun 2020

Jabbour Samir, Hamel Patrick, Soucy Jean-François, Ospina Luis H

Abstract excerpt

PURPOSE: To report 2 novel variants in the AAAS gene consistent with the diagnosis of Allgrove syndrome. METHODS: A 12-year-old girl was referred to our clinic for progressive bilateral decrease in visual acuity. She was known for achalasia that had been surgically treated at a very early age. On examination, she was found to have dry eye disease secondary to lacrimal insufficiency. She also had anisocoria,...

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PMID: 32073457
DOI: 10.1097/ICO.0000000000002287

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