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Figure 1

Figure 1. From: Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

MRI of the brain of 12 year-old boy with triple-A syndrome showing hypoplastic lacrimal glands (yellow arrows.)

Brian P Brooks, et al. BMC Ophthalmol. 2004;4:7-7.

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2.
Figure 2

Figure 2. From: Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

Compound heterozygous mutations in AAAS gene in subject with triple-A syndrome. The subject has a novel, five base-pair deletion in exon 15 (A, deletion boxed in control panel) predicted to cause a frameshift and a premature truncation of the Aladin protein. He also had a cytosine to thymidine mutation (B) in exon 9, predicted to cause a premature stop of protein translation.

Brian P Brooks, et al. BMC Ophthalmol. 2004;4:7-7.

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