Associated Papers
Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway.
Chen Y et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
A common pathomechanism in GMAP-210- and LBR-related diseases.
Wehrle A et al.
Jci Insight, 2018
30518689 (PubMed )
Supplement: jciinsight-3-121150-s099.pdf
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
Borovik L et al.
American Journal of Medical Genetics. Part A, 2013
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