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

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

IntroductionThe 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...

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Main Authors: Marina Mordenti, Manila Boarini, Federico Banchelli, Diego Antonioli, Serena Corsini, Maria Gnoli, Manuela Locatelli, Elena Pedrini, Eric Staals, Giovanni Trisolino, Marcella Lanza, Luca Sangiorgi
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Endocrinology
Subjects:
osteogenesis imperfecta
phenotype
extraskeletal manifestations
bone fragility
brittle bone disease
collagen
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1299232/full

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