Smith DK

ORCID: 0000-0001-6323-8700 · 1 paper in corpus

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

ContextMutations 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 de…