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Public Documents
1
Optic Pathway tumor in a novel KIAA1109 variant
Krunal Shah
and 7 more
March 31, 2022
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.
