Use of Bisphosphonates in Genetic Diseases Other than Osteogenesis Imperfecta
Bruck Syndrome (OMIM 259450) Inheritance: Autosomal recessive. Genetic defect: 1. Mutations in PLOD2 gene (probably located in the chromosome 17p12 region) resulting in deficiency of a bone-specific telopeptidyl lysyl hydroxylase…