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Article

Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.

Journal of endocrinological investigation - 1 Feb 2026

Guarnieri Vito, Celli Luca, De Luca Chiara, Zambrano Anna, Faienza Maria Felicia, Vitale Rossella, de Gasperis Nicola, Tamburrino Federica, Scarano Emanuela, Di Fabio Sandra, Brancati Francesco, Celli Mauro, Castori Marco

Abstract excerpt

PURPOSE: Osteogenesis imperfecta (OI) usually follows an autosomal dominant inheritance pattern. We aimed to explore the epidemiological impact of autosomal recessive OI in a pediatric population and expand the mutational repertoire in this cohort. METHODS: We presented our six-year (2018–2024) monocentric next-generation sequencing diagnostic activity on 93 unrelated children with a suspicion of OI. Variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41171600
DOI: 10.1007/s40618-025-02736-9

Genes

PLOD2
SERPINF1
WNT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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