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- W3111353417 abstract "Alagille syndrome is a rare genetic syndrome, which arises due to defects in the Notch signaling pathway, resulting in liver, cardiopulmonary, renal, skeletal, and ophthalmologic problems, among others. Epidermoid cysts are rare congenital benign lesions that develop from ectopic ectodermal cell rests formed during neurulation.A 24-year-old Alagille syndrome patient presented with hearing loss and was found to have a sizable posterior fossa mass. He underwent craniotomy for uneventful resection of the lesion, which was found to be an epidermoid cyst.While our case may represent a coincidental occurrence of two pathologies presenting together, given that epidermoid cysts arise from aberrant neurulation, and in light of the crucial role of the Notch signaling pathway both in normal neurogenesis and in the pathogenesis of Alagille syndrome, we hypothesize a possible association between these entities." @default.
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- W3111353417 date "2020-12-11" @default.
- W3111353417 modified "2023-09-23" @default.
- W3111353417 title "Epidermoid cyst in a patient with Alagille syndrome: Coincidence or connection?" @default.
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- W3111353417 doi "https://doi.org/10.25259/sni_611_2020" @default.
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