Works cited by this work

21 works

Work: Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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2. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

   Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan +11

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3. Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis

   Annemarie J. van der Slot, Anne‐Marie Zuurmond, A. Bardoel +12

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4. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

   U. Schwarze, Tim Cundy, Shawna M. Pyott +35

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5. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17

   Ruud A. Bank, Simon P. Robins, Cisca Wijmenga +5

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6. Human Gene Mutation Database (HGMD^®): 2003 update

   Peter D. Stenson, Edward V. Ball, Matthew Mort +6

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