Associated Papers
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy.
Alkhater RA et al.
Annals of Clinical and Translational Neurology, 2019
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
Rafiullah R et al.
Journal of Medical Genetics, 2016
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