Associated Papers
Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.
Zhou W et al.
Jbmr Plus, 2022
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.
Mumm S et al.
Bone, 2020
SiMPLOD, a Structure-Integrated Database of Collagen Lysyl Hydroxylase (LH/PLOD) Enzyme Variants.
Scietti L et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019
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
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