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Şirin Bozlak

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Open access Sep 2026

Novel Homozygous LAMC3 Frameshift Variant Associated with Confluent Leukoencephalopathy and Low-Grade Tectal Glioneuronal Tumor: Expanding the Phenotypic Spectrum with Bioinformatic Characterization

The LAMC3 phenotype is expanded to include leukoencephalopathy and a co-occurring low-grade tectal glioneuronal tumor is reported as a novel, single-case observation, supporting inclusion of LAMC3 in the differential diagnosis of pediatric leukoencephalopathies, particularly with consanguinity.

Serdar Bozlak, Cüneyd Yavaş, H. I. Yilmaz et al. · 0 citations

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