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- W2000592135 abstract "Wolf–Hirschhorn syndrome is a well-known clinical entity caused by a terminal deletion of the short arm of chromosome 4 (4p-). The diagnosis is usually made in childhood because of the pathognomonic facial dysmorphism, multi-organ involvement and seizures. Epilepsy is a major medical complication during the first years of life, with seizures typically being frequent, although they tend to improve or cease with age. We report on a woman diagnosed with WHS in her thirties by array-CGH. She presents with milder dysmorphic features, recognized by stereophotogrammetry and seizures persistent in adulthood." @default.
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- W2000592135 date "2013-01-01" @default.
- W2000592135 modified "2023-09-23" @default.
- W2000592135 title "Pediatric diagnosis not made until adulthood: A case of Wolf–Hirschhorn syndrome" @default.
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- W2000592135 doi "https://doi.org/10.1016/j.gene.2012.09.108" @default.
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