adult hypophosphatasia

a·dult hy·po·phos·pha·ta·si·a

[MIM*146300]

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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