Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the <i>IFITM5</i> c.−14C>T mutation in all patients - Concepedia

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Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the <i>IFITM5</i> c.−14C>T mutation in all patients

113

Citations

17

References

2012

Year

Frank Rauch, Pierre Moffatt, Moira Cheung, Peter J. Roughley, Liljana Lalic, Allan M. Lund, Norman Ramírez, Somayyeh Fahiminiya, Jacek Majewski, Francis H. Glorieux

Journal of Medical Genetics

Abstract

Even though the disease-causing mutation is identical among patients with OI type V, the interindividual phenotypic variability is considerable.

References

	Year	Citations

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