Associated Papers
Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.
Kot A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly.
Zhou Z et al.
Hgg Advances, 2024
38006208 (PubMed )
Supplement: mmc1.pdf
Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.
Otaify GA et al.
American Journal of Medical Genetics. Part A, 2022
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
Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.
Lv F et al.
Calcified Tissue International, 2018
Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.
Zhou P et al.
Plos One, 2014
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
Puig-Hervás MT et al.
Human Mutation, 2012
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