Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

  title={Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.},
  author={Y Gong and Miikka Vikkula and Louis Boon and J Liu and peter. beighton and Rajkumar Sewcharan Ramesar and Leena Peltonen and Hannu Somer and Tetsuro Hirose and Bruno Dallapiccola and Anne De Paepe and Walter Swoboda and Bernd Zabel and Andrea Superti-Furga and Beat Steinmann and Han G. Brunner and Ab Jans and Richard G. Boles and William Adkins and M J van den Boogaard and Bjorn Reino Olsen and Matthew L Warman},
  journal={American journal of human genetics},
  volume={59 1},
Osteoporosis-pseudoglioma syndrome (OPS) is an autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness. The pathogenic mechanism is not known. Clinical, biochemical, and microscopic analyses suggest that OPS may be a disorder of matrix homeostasis rather than a disorder of matrix structure. Consequently, identification of the OPS gene and its protein product could provide insights regarding common osteoporotic conditions, such… CONTINUE READING

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