Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review

Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by bone fragility and is characterized by clinical and genetic heterogeneity. Previous studies showed that the same mutation (c.−14C> T) of the IFITM5 gene is responsible for autosomal dominant OI type V. Ho...

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Bibliographic Details
Main Authors: Yang-Jia Cao, Zhe Wei, Hao Zhang, Zhen-Lin Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-06-01
Series:Frontiers in Endocrinology
Subjects:
osteogenesis imperfecta type V
IFITM5
mutation
phenotype
variability
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2019.00375/full

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