drome had multiple retinal hamartomas, cortical dysplasia, a subependymal giant cell astrocytoma, and renal angiomyolipomas. He was found to have a TSC2 (OMIM 191092) mutation. On dermatological examination, he had angiofibromas, 2 ungual fibromas, 2 shagreen patches, multiple hypomelanic macules of the limbs and trunk, and dental enamel pits. Bier spots were noted on the upper limbs.
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Riemer et al. (2015) studied this question.
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