Article
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.
Orphanet journal of rare diseases - 21 Feb 2009
Reibel Amélie, Manière Marie-Cécile, Clauss François, Droz Dominique, Alembik Yves, Mornet Etienne, Bloch-Zupan Agnès
Abstract excerpt
BACKGROUND: Hypophosphatasia (HP) is a rare inherited disorder characterized by a wide spectrum of defects in mineralized tissues and caused by deficiency in the tissue non-specific alkaline phosphatase gene (ALPL). The symptoms are highly variable in their clinical expression, and relate to numerous mutations in this gene. The first clinical sign of the disease is often a premature loss of deciduous teeth,...
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