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

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 dental disease have undiagnosed HPP, caused by ALPL variants...

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Veröffentlicht in:J Clin Endocrinol Metab
Hauptverfasser: Dahir, Kathryn M, Tilden, Daniel R, Warner, Jeremy L, Bastarache, Lisa, Smith, Derek K, Gifford, Aliya, Ramirez, Andrea H, Simmons, Jill S, Black, Margo M, Newman, John H, Denny, Josh C
Format: Artigo
Sprache:Inglês
Veröffentlicht: Endocrine Society 2018
Schlagworte:
Clinical Research Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6456921/
https://ncbi.nlm.nih.gov/pubmed/29659871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2017-02676
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