Article

Lipid transport is necessary for neocortical lamination

2025-12-09

Abstract excerpt

<h4>ABSTRACT</h4> We previously described the Alkuraya-Kučinskas syndrome, a disorder associated with biallelic variants in BLTP1 (bridge-like lipid transfer protein), a.k.a. KIAA1109 . The majority of probands die perinatally with corpus callosum agenesis, ventriculomegaly and arthrogryposis. Homozygous ablation of mouse Bltp1 resulted in similar preweaning lethality. Here, we describe ten novel patients expa...

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Literature Corpus work: d56d10ba-50d2-5f1b-ba2c-7cb055269e9f
DOI: 10.64898/2025.12.05.692589

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