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adult hypophosphatasia


Definition: an autosomal dominant skeletal disorder with early loss of teeth, bowing of limbs diagnosed as rickets, and beaten-copper appearance on skull radiographs. It is caused by mutation in the gene ALPL encoding tissue-nonspecific alkaline phosphatase on 1p.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.