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Author

H. Bellamine

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Review Aug 2026

Biallelic Frameshift Variant in LAMB1 Associated with Occipital Meningoencephalocele and Pansutural Craniosynostosis: A Case Report and Review of the Literature.

A novel homozygous frameshift variant in LAMB1 is identified and it is proposed that this loss-of-function variant impairs integrin-β1-mediated mechanotransduction during human neural tube closure, thereby disrupting the extracellular matrix-planar cell polarity axis.

S. Darouich, Samia Darouich, Ahmed Khemiri et al. · 0 citations

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