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To the best of our knowledge, this patient has an unusual combination of symptoms not previously described, associated with severe central nervous system dysfunction. The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20692","type":"journal-article","created":{"date-parts":[[2004,4,20]],"date-time":"2004-04-20T18:01:46Z","timestamp":1082484106000},"page":"212-216","source":"Crossref","is-referenced-by-count":5,"title":["Hypertelorism, ptosis, and myopia associated with drug\u2010resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and 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