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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
Open access Sep 2026

Contemporary Profile of Hybrid Nerve Sheath Tumors: Clinical, Anatomical, and Imaging Characteristics

Simple Summary Hybrid peripheral nerve sheath tumors are rare benign tumors that contain features of more than one type of nerve sheath tumor. Because most published reports focus mainly on pathology, little is known about how these tumors present clinically, where they occur, how they appear on imaging, and how they b...

N. Grübel, A. Uerschels, O. Gembruch et al. · 0 citations

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