Article
Case report: multiple fractures in a patient with mutations of TWIST1 and TNSALP.
Clinical orthopaedics and related research - 1 Apr 2008
Barvencik Florian, Gebauer Matthias, Schinke Thorsten, Amling Michael
Abstract excerpt
Hypophosphatasia is a rare inherited disorder characterized by defective skeletal mineralization and low alkaline phosphatase activities in the serum. The genetic cause of hypophosphatasia is believed related to inactivating mutations in the TNSALP gene, encoding tissue-nonspecific alkaline phosphatase. Another rare inheritable disease, Saethre-Chotzen syndrome, leads to premature fusion of the cranial sutures...
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