Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients

@inproceedings{Zhou2014NovelMI,
  title={Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients},
  author={Peiran Zhou and Yi Liu and F. J. Lv and Min Nie and Yan Jiang and Ou Wang and Weibo Xia and Xiaoping Xing and Mei Li and Andreas R Janecke},
  booktitle={PloS one},
  year={2014}
}
Bruck syndrome (BS) is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple fractures and short stature. We described the phenotypes of BS in two Chinese patients for the first time. The novel compound heterozygous mutations c.764_772dupACGTCCTCC (p.255_257dupHisValLeu) in exon 5 and c.1405G>T (p.Gly469X) in exon 9 of FKBP10 were identified in one proband. The novel compound heterozygous mutations c.1624delT (p.Tyr542Thrfs*18) in exon 14 and… CONTINUE READING
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Blissett AR (2013) New genes in bone development: what’s new in osteogenesis imperfecta

  • JC Marini
  • J Clin Endocrinol Metab
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