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Article

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.

Calcified tissue international - 1 Feb 2024

Costa Adriana, Martins Andreia, Machado Catarina, Lundberg Elena, Nilsson Ola, Wang Fan, Costantini Alice, Tournis Symeon, Höppner Jakob, Grasemann Corinna, Mäkitie Outi

Abstract excerpt

Childhood-onset osteoporosis is a rare but clinically significant condition. Studies have shown pathogenic variants in more than 20 different genes as causative for childhood-onset primary osteoporosis. The X-chromosomal PLS3, encoding Plastin-3, is one of the more recently identified genes. In this study, we describe five new families from four different European countries with PLS3-related skeletal fragility....

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Source

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Identifiers

PMID: 38043102
DOI: 10.1007/s00223-023-01162-4
PMCID: PMC10803541

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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