First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function.

@article{Piters2010FirstMM,
  title={First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function.},
  author={Elke Piters and Cavit Çulha and Martiene J C Moester and R L Van bezooijen and Dirk Adriaensen and Thomas Mueller and Stella E. Weidauer and Karen Jennes and Fenna de Freitas and Clemens L{\"o}wik and Jean-Pierre Timmermans and Wim van Hul and Socrates E Papapoulos},
  journal={Human mutation},
  year={2010},
  volume={31 7},
  pages={E1526-43}
}
Sclerosteosis is a rare bone dysplasia characterized by greatly increased bone mass, especially of the long bones and the skull. Patients are tall, show facial asymmetry and often have syndactyly. Clinical complications are due to entrapment of cranial nerves. The disease is thought to be due to loss-of-function mutations in the SOST gene. The SOST gene product, sclerostin, is secreted by osteocytes and transported to the bone surface where it inhibits osteoblastic bone formation by… CONTINUE READING

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