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Article

Discrepancies in the Phenotypical Classification of Osteogenesis Imperfecta in a Patient with COL1A2 Mutation: A Case Report.

The American journal of case reports - 27 Dec 2023

Mahneva Olena, Victor-Linkenhoker Vanessa

Abstract excerpt

BACKGROUND Osteogenesis imperfecta (OI) is a rare genetic disease that results from mutations in type 1 collagen (COL1) or its interacting proteins. Such mutations lead to defects in bone structure, causing brittle bones, short stature, hearing loss, and dental problems, among others. The current classification system arranges OI into types according to a clinical phenotype that includes the severity of the...

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PMID: 38148598
DOI: 10.12659/AJCR.942239
PMCID: PMC10763640

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