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- W3125317164 abstract "Lenz microphthalmia syndrome (LMS) is an allelic X-linked syndrome correlated to a null mutation of B cell lymphoma (BCL-6) corepressor (BCOR) gene, which is essential in the early embryonic development. Phenotypically, this rare hereditary syndrome is characterized by microphthalmia/anophthalmia and other eye disorders; mental disability; dental, ear, and digital abnormalities; and variable malformations affecting the heart, skeleton (limbs and/or spine), and genitourinary tract. In this paper, a case of a young adult with LMS affected additionally by immuno-hematological disturbances was treated with decompressive craniectomy after domestic accidental fall. Case description and a brief review of the current literature about this rare condition are presented here." @default.
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- W3125317164 date "2021-01-25" @default.
- W3125317164 modified "2023-09-27" @default.
- W3125317164 title "Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature" @default.
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- W3125317164 doi "https://doi.org/10.1007/s00381-020-05035-1" @default.
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