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Lenika De Simone

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Open access Oct 2026

Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction.

The PIKfyve-FIG4-VAC14 lipid kinase complex generates phosphoinositide PI(3,5)P2. Pathogenic variants in VAC14 and FIG4 cause neurodevelopmental disorders and PIKFYVE has been linked to autosomal dominant fleck corneal dystrophy. We searched for the underlyging, genetic cause of a neurodevelopmental disorder in five af...

L. Averdunk, Martin Groß, Anne Hamacher et al. · 0 citations

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