Boy with a ring 7 chromosome: a case report with special reference to dermatological findings.
作者信息
Wahlström J, Bjarnason R, Rosdahl I, Albertsson-Wikland K
机构信息
Department of Neuroscience, University of Göteborg, Sweden.
出版信息
Acta Paediatr. 1996 Oct;85(10):1256-60. doi: 10.1111/j.1651-2227.1996.tb18243.x.
Abstract
A ring chromosome 7 was found in an 8-year-old boy investigated on account of short stature and facial dysmorphism. He had a fair skin, almost white hair, cafe-au lait spots and many black atypical pigmented naevi. Electron microscopy of his skin revealed structural changes in melanocytes and keratinocytes, suggesting disturbed cell growth and differentiation.
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