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Article

Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients.

Frontiers in endocrinology - 1 Jan 2023

Mordenti Marina, Boarini Manila, Banchelli Federico, Antonioli Diego, Corsini Serena, Gnoli Maria, Locatelli Manuela, Pedrini Elena, Staals Eric, Trisolino Giovanni, Lanza Marcella, Sangiorgi Luca

Abstract excerpt

Introduction: The present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to inform appropriate management in clinical practice. Methods: A total of 568 subjects (from 446 unrelated Italian families) affected by osteogenesis imperfecta who...

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Identifiers

PMID: 38274230
DOI: 10.3389/fendo.2023.1299232
PMCID: PMC10809148

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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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