Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.

@article{Shaheen2012StudyOA,
  title={Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.},
  author={Ranad Shaheen and Anas M. Alazami and Muneera J Alshammari and Eissa Ali Faqeih and Nadia Alhashmi and Noon Mousa and Aisha Alsinani and Shinu Ansari and Fatema Alzahrani and Mohammed A. Al-Owain and Zayed S. Alzayed and Fowzan S Alkuraya},
  journal={Journal of medical genetics},
  year={2012},
  volume={49 10},
  pages={
          630-5
        }
}

• Ranad Shaheen, Anas M. Alazami, +9 authors Fowzan S Alkuraya
• Published in Journal of medical genetics 2012
• DOI:10.1136/jmedgenet-2012-101142

BACKGROUND Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased bone fragility leads to frequent fractures and other complications, usually in an autosomal dominant fashion. An expanding list of genes that encode proteins related to collagen metabolism are now recognised as important causes of autosomal recessive (AR) OI. Our aim was to study the contribution of known genes to AR OI in order to identify novel loci in mutation-negative cases. METHODS We enrolled… CONTINUE READING

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