IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

Abstract Background Osteogenesis imperfecta (OI) covers a spectrum of bone fragility disorders. OI is classified into five types; however, the genetic causes of OI might hide in pathogenic variants of 20 different genes. Often clinical OI types mimic each other. This sometimes makes it impossible to...

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Bibliographic Details
Main Authors: Lidiia Zhytnik, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev Kõks, Aare Märtson
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Human Genomics
Subjects:
Osteogenesis imperfecta
IFITM5
Type V
Hyperplastic callus
Bone fragility
Online Access:http://link.springer.com/article/10.1186/s40246-019-0209-3

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