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Article

Optic Pathway tumor in a novel KIAA1109 variant

2022-03-31

Abstract excerpt

Alkuraya-Kucinskas syndrome is a neurodevelopmental disorder due to mutation in KIAA1109 gene. We report a case of optic pathway tumor in a child with novel variant of KIAA1109. A plausible mechanism of gliomagenesis is considered based on influence of KIAA1109 on regulation of phosphatidyl inositol phosphorylation.

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Literature Corpus work
0b7f6931-d6f4-5f8b-8e2e-7333f86ba8f1
DOI
10.22541/au.164873413.30693698/v1
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