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Article

Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia.

Frontiers in endocrinology - 1 Jan 2022

Sanabria-de la Torre Raquel, Martínez-Heredia Luis, González-Salvatierra Sheila, Andújar-Vera Francisco, Iglesias-Baena Iván, Villa-Suárez Juan Miguel, Contreras-Bolívar Victoria, Corbacho-Soto Mario, Martínez-Navajas Gonzalo, Real Pedro J, García-Fontana Cristina, Muñoz-Torres Manuel, García-Fontana Beatriz

Abstract excerpt

Hypophosphatasia (HPP) a rare disease caused by mutations in the ALPL gene encoding for the tissue-nonspecific alkaline phosphatase protein (TNSALP), has been identified as a potentially under-diagnosed condition worldwide which may have higher prevalence than currently established. This is largely due to the overlapping of its symptomatology with that of other more frequent pathologies. Although HPP is usually...

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Identifiers

PMID: 35498405
DOI: 10.3389/fendo.2022.863940
PMCID: PMC9047899

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