Article

Decoding Phenotypic Variability in Osteogenesis Imperfecta: Zebrafish as a Model for Molecular and Ultrastructural Insights

2025-01-29

Abstract excerpt

Phenotypic variability is common in human diseases, even when the same genes are affected. In this study, three zebrafish models of Osteogenesis Imperfecta (OI) with dominant glycine substitutions in type I collagen genes ( col1a1a mh13/+ , col1a1a dc124/+ , and col1a2 mh15/+ ) were characterized for phenotypic severity and variability, using a newly developed standardized scoring system. Comprehensive analy...

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Literature Corpus work: 6ef59efb-27b5-58b4-9f9c-f7cd73e9452a
DOI: 10.1101/2025.01.28.635270

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