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Article

Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.

American journal of medical genetics. Part A - 1 Jul 2018

Balasubramanian Meena, Fratzl-Zelman Nadja, O'Sullivan Rory, Bull Mary, Fa Peel Nicola, Pollitt Rebecca C, Jones Rebecca, Milne Elizabeth, Smith Kath, Roschger Paul, Klaushofer Klaus, Bishop Nicholas J

Abstract excerpt

BACKGROUND: Idiopathic Juvenile Osteoporosis (IJO) refers to significantly lower than expected bone mass manifesting in childhood with no identifiable aetiology. IJO classically presents in early pubertal period with multiple fractures including metaphyseal and vertebral crush fractures, and low bone-mass. METHODS: Here we describe two patients and provide information on their clinical phenotype, genotype and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29736964
DOI: 10.1002/ajmg.a.38830

Genes

PLS3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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