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Matches in SemOpenAlex for { <https://semopenalex.org/work/W1997591637> ?p ?o ?g. }

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• W1997591637 abstract "We report a 30-year-old woman with hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy (DRE, Lennox–Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia. 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. © 2004 Wiley-Liss, Inc." @default.
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• W1997591637 date "2004-01-01" @default.
• W1997591637 modified "2023-09-23" @default.
• W1997591637 title "Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia" @default.
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• W1997591637 doi "https://doi.org/10.1002/ajmg.a.20692" @default.
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