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
        }
}
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

Citations

Publications citing this paper.
SHOWING 1-10 OF 61 CITATIONS, ESTIMATED 59% COVERAGE

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.

  • The Journal of clinical endocrinology and metabolism
  • 2017
VIEW 16 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta.

  • Genetics and molecular research : GMR
  • 2016
VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Genetics and genomic medicine in Saudi Arabia

  • Molecular genetics & genomic medicine
  • 2014
VIEW 6 EXCERPTS

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

  • Molecular genetics & genomic medicine
  • 2019
VIEW 2 EXCERPTS
CITES BACKGROUND

FILTER CITATIONS BY YEAR

2013
2019

CITATION STATISTICS

  • 4 Highly Influenced Citations