Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

@article{Wenkert2011HypophosphatasiaND,
  title={Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).},
  author={Deborah Wenkert and W Howard Mcalister and Stephen P. Coburn and Janice A Zerega and Lawrence M. Ryan and Karen L Ericson and Joseph H. Hersh and Steven R. Mumm and Michael P Whyte},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2011},
  volume={26 10},
  pages={2389-98}
}
Hypophosphatasia (HPP) is caused by deactivating mutation(s) within the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Patients manifest rickets or osteomalacia and dental disease ranging from absence of skeletal mineralization in utero to only loss of adult dentition. Until recently, HPP skeletal disease in utero was thought to always predict a lethal outcome. However, several reports beginning in 1999 emphasized a benign prenatal form of HPP (BP-HPP… CONTINUE READING
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