Associated Papers
Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells.
Yasuda R et al.
Human Molecular Genetics, 2025
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.
Toutouna L et al.
American Journal of Medical Genetics. Part A, 2023
Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation.
Yasuda R et al.
Neurology. Genetics, 2020
Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.
Okazaki T et al.
Clinical Genetics, 2018
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