Brian P Brooks Robert Kleta Rafael C Caruso Caroline Stuart Jonathan Ludlow Constantine A Stratakis
10.1186/1471-2415-4-7
BMC Ophthalmol
2004 Jun 24;4:7.
NO-CC CODE
https://pubmed.ncbi.nlm.nih.gov/15217518/
Adrenal Insufficiency / genetics Autonomic Nervous System Diseases / genetics Dry Eye Syndromes / genetics Esophageal Achalasia / genetics Mutation Ocular Motility Disorders / genetics Proteins / genetics
Adrenal Insufficiency / genetics Autonomic Nervous System Diseases / genetics Dry Eye Syndromes / genetics Esophageal Achalasia / genetics Mutation Ocular Motility Disorders / genetics Proteins / genetics Case Reports Accommodation, Ocular Adrenal Insufficiency / diagnosis Adrenocorticotropic Hormone / blood Autonomic Nervous System Diseases / diagnosis Child Dry Eye Syndromes / diagnosis Esophageal Achalasia / diagnosis Esotropia / diagnosis Esotropia / genetics Humans Magnetic Resonance Imaging Male Nerve Tissue Proteins Nuclear Pore Complex Proteins Ocular Motility Disorders / diagnosis Polymerase Chain Reaction Pupil Disorders / diagnosis Pupil Disorders / genetics Syndrome AAAS protein, human Nerve Tissue Proteins Nuclear Pore Complex Proteins Proteins Adrenocorticotropic Hormone
PMC459227
15217518
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report
2004