Below JE

No ORCID on file · 1 paper in corpus

2026

Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research ·doi:10.1093/jbmr/zjaf176

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