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

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 identif...

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Vydáno v:Hum Genomics
Hlavní autoři: Zhytnik, Lidiia, Maasalu, Katre, Duy, Binh Ho, Pashenko, Andrey, Khmyzov, Sergey, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Primary Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6547447/
https://ncbi.nlm.nih.gov/pubmed/31159867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-019-0209-3
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