Statistics from Altmetric.com
Hypophosphatasia occurs in about 1 in 100000 births. It results from loss of function mutations in the gene for the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP). The disease manifests in many forms and degrees of severity, from the lethal perinatal form to dental disease in adult life. The perinatal and infantile forms are usually recessively inherited. Neonates …
Competing interests None.
Provenance and peer review Commissioned; internally peer reviewed.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.