Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.

@article{Heaney1998HumanAR,
  title={Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.},
  author={Christopher J Heaney and Hanna Shalev and Khalil Elbedour and Rivka Carmi and Jeffrey B Staack and Val C. Sheffield and David R Beier},
  journal={Human molecular genetics},
  year={1998},
  volume={7 9},
  pages={1407-10}
}
Autosomal recessive osteopetrosis is a rare congenital disorder characterized by the development of abnormally dense bones, acrocephaly, severe anemia, hepatosplenomegaly and progressive deafness and blindness. The clinical course is rapidly progressive and is lethal at a very young age in the absence of a bone marrow transplant. The failure to remodel developing bone that is the basis of the disease process is most likely due to a dysfunction of the bone resorptive cell, the osteoclast. This… CONTINUE READING
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Localization of a gene for autosomal dominant osteopetrosis (Albers–Schonberg disease) to chromosome 1p21

  • W. van Hul, J. Bollerslev, +5 authors P. Willems
  • Am. J. Hum. Genet .,
  • 1997
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