Associated Papers
Structure of an Fe2+-binding-deficient mimiviral collagen lysyl hydroxylase.
Chen T et al.
Acta Crystallographica. Section F, Structural Biology Communications, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2.
Zhang J et al.
Frontiers in Genetics, 2021
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.
Mumm S et al.
Bone, 2020
Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information.
Tham E et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2018
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
Leal GF et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2018
Select a paper to view details