Article

Human models of GLE1-associated LCCS1 reveal neural crest deficiency and multisystem developmental failure accompanied by altered RNA metabolism

2026-05-29

Abstract excerpt

Lethal congenital contracture syndrome 1 (LCCS1) is a neurodevelopmental disorder caused by GLE1 c.432-10A>G variant and presenting fetal akinesia, defects in anterior horn spinal cord, skin, skull, and skeletal muscle development. The uniform prenatal lethality of LCCS1 limits access to patient material, thereby hindering mechanistic studies in physiologically relevant models. To overcome this, human embryonic s...

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Literature Corpus work: e088797e-d83b-5b1d-a617-b0483e93bc93
DOI: 10.64898/2026.05.28.726124

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