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Verkerk, Ph.D. Uitterlinden, Ph.D., Alessandra Maugeri, Ph.D., Erik A. Sistermans, Ph.D., Quinten Waisfisz, Ph.D., Hanne Meijers-Heijboer, M.D., Ph.D., Brunhilde Wirth, Ph.D., Marleen E.H. Simon, M.D., and Gerard Pals, Ph.D.: Brief Record: PLS3 Mutations in X-Connected Osteoporosis with Fractures Osteoporosis is a prevalent disorder characterized by low bone mass and microarchitectural deterioration of bone tissue, which outcomes in bone fragility and fractures.1 It is diagnosed clinically and often confirmed by measuring bone mineral density .1,2 An understanding of the sources of osteoporosis is important for its prevention, medical diagnosis, and treatment. The investigation of rare mendelian disorders with decreased BMD as a key diagnostic feature constitutes a strategy for identifying genetic determinants of osteoporosis.