Kathryn M Dahir

No ORCID on file · 2 papers in corpus

observational 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…

observational 2018

Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders

The Journal of clinical endocrinology and metabolism ·doi:10.1210/jc.2017-02676

CONTEXT: Mutations in alkaline phosphatase (AlkP), liver/bone/kidney (ALPL), which encodes tissue-nonspecific isozyme AlkP, cause hypophosphatasia (HPP). HPP is suspected by a low-serum AlkP. We hypothesized that some patients with bone or …