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Article

X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3.

Genes - 23 Nov 2021

Brlek Petar, Antičević Darko, Molnar Vilim, Matišić Vid, Robinson Kristina, Aradhya Swaroop, Krpan Dalibor, Primorac Dragan

Abstract excerpt

Osteogenesis imperfecta (OI) represents a complex spectrum of genetic bone diseases that occur primarily due to mutations and deletions of the COL1A1 and COL1A2 genes. Recent molecular studies of the network of signaling pathways have contributed to a better understanding of bone remodeling and the pathogenesis of OI caused by mutations in many other genes associated with normal bone mineralization. In this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34946798
DOI: 10.3390/genes12121851
PMCID: PMC8701009

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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