A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.

@article{Semler2012AMI,
  title={A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.},
  author={Oliver Semler and Lutz Garbes and Katharina Keupp and Daniel C. Swan and Katharina Zimmermann and Jutta Becker and Sandra Iden and Brunhilde Wirth and Peer Eysel and Friederike Koerber and Eckhard Schoenau and Stefan K Bohlander and Bernd Wollnik and Christian Netzer},
  journal={American journal of human genetics},
  year={2012},
  volume={91 2},
  pages={349-57}
}
Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder associated with bone fragility and susceptibility to fractures after minimal trauma. OI type V has an autosomal-dominant pattern of inheritance and is not caused by mutations in the type I collagen genes COL1A1 and COL1A2. The most remarkable and pathognomonic feature, observed in ~65% of affected individuals, is a predisposition to develop hyperplastic callus after fractures or surgical interventions. To… CONTINUE READING
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Identification of a mutation causing deficient BMP 1 / mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

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