Hypophosphatasia

Definition:

Hypophosphatasia is an inherited disorder caused by deficiency of alkaline phosphatase activity and characterized by defective bone and teeth mineralization. The transmission of severe forms is autosomal recessive, while milder forms may be transmitted as dominant or recessive autosomal traits.

References:

[1]. Etienne Mornet, et al. Hypophosphatasia. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):113-27. [Content Brief]

[2]. Etienne Mornet, et al. Hypophosphatasia. Orphanet J Rare Dis. 2007 Oct 4;2:40. [Content Brief]

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