Hypophosphatasia: Low Penetrance of Pathogenic and Likely-Pathogenic ALPL Variants Identified Through an Unselected Biorepository.

Hypophosphatasia (HPP) is a heritable multisystem disorder caused by pathogenic variants in the tissue non-specific alkaline phosphatase (ALP)-coding gene ALPL. The genotype-phenotype correlation in heterozygous adults with HPP remains incompletely u…

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