Article
A molecular-based estimation of the prevalence of hypophosphatasia in the European population.
Annals of human genetics - 1 May 2011
Mornet Etienne, Yvard Alice, Taillandier Agnes, Fauvert Delphine, Simon-Bouy Brigitte
Abstract excerpt
The prevalence of hypophosphatasia (HP), a rare metabolic disorder due to loss-of-function mutations in the ALPL gene, has never been estimated in the European population. Only one published study evaluated the incidence of severe HP at 1/100,000 in Canada 53 years ago. Moderate forms of hypophosphatasia (mHP), including HP with moderate bone features and the mildest form odontohypophosphatasia, reflect both...
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