Article
Boy with a ring 7 chromosome: a case report with special reference to dermatological findings.
Acta paediatrica (Oslo, Norway : 1992) - 1 Oct 1996
Wahlström J, Bjarnason R, Rosdahl I, Albertsson-Wikland K
Abstract excerpt
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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