Article
Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
Bone - 1 Oct 2013
Martins Luciane, Rodrigues Thaisângela L, Ribeiro Mariana Martins, Saito Miki Taketomi, Giorgetti Ana Paula Oliveira, Casati Márcio Z, Sallum Enilson A, Foster Brian L, Somerman Martha J, Nociti Francisco H
Abstract excerpt
Hypophosphatasia (HPP) is an inherited disorder of mineral metabolism caused by mutations in ALPL, encoding tissue non-specific alkaline phosphatase (TNAP). Here, we report the molecular findings from monozygotic twins, clinically diagnosed with tooth-specific odontohypophosphatasia (odonto-HPP). Sequencing of ALPL identified two genetic alterations in the probands, including a heterozygous missense mutation...
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