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Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI
Autor:
Irina Zh. Zhalsanova, Anna Evgenievna Postrigan, Nail Raushanovich Valiakhmetov, Nikita Aleksandrovich Kolesnikov, Daria Ivanovna Zhigalina, Aleksei Andreevich Zarubin, Valeria Viktorovna Petrova, Larisa Ivanovna Minaycheva, Gulnara Narimanovna Seitova, Nikolay Alekseevich Skryabin, Vadim Anatolevich Stepanov
Publikováno v:
International Journal of Molecular Sciences. 24:6672
Osteogenesis imperfecta (OI) is a group of connective tissue disorders with different types of inheritance. OI is characterized by bone fragility and deformities, frequent fractures, low bone-mineral density, and impaired bone micro-architectonics. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d18ad13be43e9c2b1b4dd3cf548a6a5
https://doi.org/10.3390/ijms24076672
https://doi.org/10.3390/ijms24076672
