Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.

@article{Pangrazio2006MutationsIO,
  title={Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.},
  author={Alessandra Pangrazio and Pietro Luigi Poliani and Andr{\'e} M{\'e}garban{\'e} and G{\'e}rard Lefranc and Edoardo Lanino and M Di Rocco and Francesca Rucci and Franco Lucchini and Maria Ravanini and Fabio F. Facchetti and Mario Abinun and Paolo Vezzoni and Anna Villa and Annalisa Frattini},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2006},
  volume={21 7},
  pages={1098-105}
}
UNLABELLED We report three novel osteopetrosis patients with OSTM1 mutations and review two that have been previously described. Our analysis suggests that OSTM1 defines a new subset of patients with severe central nervous system involvement. This defect is also present in the gl mouse, which could represent a good model to study the role of the gene in the pathogenesis of this disease. INTRODUCTION Autosomal recessive osteopetrosis (ARO) is a severe hereditary bone disease whose cellular… CONTINUE READING

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