Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review

Osteogenesis imperfecta (OI) is a large group of genetically heterogeneous diseases resulting from decreased bone density and an abnormal microarchitecture, which are clinically manifested by abnormal bone fractures. A distinctive clinical feature of this group of diseases is the presence of spontan...

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Detalles Bibliográficos
Autores principales: Tyurin, Anton, Merkuryeva, Elena, Zaripova, Aliya, Markova, Tatyana, Nagornova, Tatyana, Dantsev, Ilya, Nadyrshina, Dina, Zakharova, Ekaterina, Khusainova, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9598403/
https://www.ncbi.nlm.nih.gov/pubmed/36289625
http://dx.doi.org/10.3390/biomedicines10102363

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