@article{809c6ceb5675474984d026a2962554ed,
title = "Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients",
abstract = "Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5. In the present study, we assessed all patients diagnosed with OI type V at our institutions for the presence of the IFITM5 mutation.",
keywords = "Adolescent, Adult, Aged, Bone and Bones, Child, Child, Preschool, Female, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Osteogenesis Imperfecta, Phenotype, Young Adult",
author = "Frank Rauch and Pierre Moffatt and Moira Cheung and Peter Roughley and Liljana Lalic and Lund, {Allan M} and Norman Ramirez and Somayyeh Fahiminiya and Jacek Majewski and Glorieux, {Francis H}",
year = "2013",
month = jan,
doi = "10.1136/jmedgenet-2012-101307",
language = "English",
volume = "50",
pages = "21--4",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "B M J Group",
number = "1",
}