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 Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly.
Dirimtekin E et al.
Molecular Syndromology, 2025
Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report.
Yin J et al.
Frontiers in Pediatrics, 2025
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W et al.
Human Mutation, 2018
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