IFITM5-related (type V) osteogenesis imperfecta with evidence of perinatal involvement: A case report

IFITM5-related (type V) osteogenesis imperfecta with evidence of perinatal involvement: A case report

Osteogenesis imperfecta (OI) is a rare hereditary disorder characterized by bone fragility and frequent fractures. While most cases are attributed to variations in collagen-coding genes COL1A1 and COL1A2, other genes such as IFITM5 have also been associated with the disease, accounting for up to 5 %...

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Bibliographic Details
Main Authors: Valentina Martínez-Montoya, Miguel Angel Fonseca-Sánchez, Gerardo Fabian-Morales, Ramiro Vega-Gamas, Gloria Eugenia Queipo-García, Luis Felipe León-Madero, Luz María Sánchez-Sánchez
Format: Article
Language:English
Published: Elsevier 2024-06-01
Series:Bone Reports
Subjects:
Osteogenesis imperfecta
IFITM5
Prenatal involvement
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187224000330

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