Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

@article{Sobacchi2007OsteoclastpoorHO,
  title={Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL},
  author={Cristina Sobacchi and Annalisa Frattini and Matteo M. Guerrini and Mario Abinun and Alessandra Pangrazio and Lucia Susani and Robbert G. M. Bredius and G. Federico Mancini and Andrew Cant and Nick Bishop and Peter Grabowski and Andrea Del Fattore and Chiara Messina and Gabriella Errigo and Fraser P. Coxon and Debbie I Scott and Anna Maria Teti and Michael J.C. Rogers and Paolo Vezzoni and Anna Villa and Miep H. Helfrich},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={960-962}
}
Autosomal recessive osteopetrosis is usually associated with normal or elevated numbers of nonfunctional osteoclasts. Here we report mutations in the gene encoding RANKL (receptor activator of nuclear factor–KB ligand) in six individuals with autosomal recessive osteopetrosis whose bone biopsy specimens lacked osteoclasts. These individuals did not show any obvious defects in immunological parameters and could not be cured by hematopoietic stem cell transplantation; however, exogenous RANKL… CONTINUE READING
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