Associated Papers
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
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
Barnes AM et al.
Human Mutation, 2012
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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