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Article

PLS3 Mutations Cause Severe Age and Sex-Related Spinal Pathology.

Frontiers in endocrinology - 1 Jan 2020

Mäkitie Riikka E, Niinimäki Tuukka, Suo-Palosaari Maria, Kämpe Anders, Costantini Alice, Toiviainen-Salo Sanna, Niinimäki Jaakko, Mäkitie Outi

Abstract excerpt

Objective: Mutations in the X-chromosomal PLS3-gene, encoding Plastin 3, lead to severe early-onset osteoporosis, suggesting a major role for PLS3 in bone metabolism. However, the consequences of abnormal PLS3 function in bone and other tissues remain incompletely characterized. This study evaluated spinal consequences of aberrant PLS3 function in patients with PLS3 mutations. Design: A cross-sectional cohort...

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Identifiers

PMID: 32655496
DOI: 10.3389/fendo.2020.00393
PMCID: PMC7324541

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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