Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI

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. We described here a case of a one-year-old Tuvan pa...

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Detalles Bibliográficos
Autores principales: Zhalsanova, Irina Zh., Postrigan, Anna Evgenievna, Valiakhmetov, Nail Raushanovich, Kolesnikov, Nikita Aleksandrovich, Zhigalina, Daria Ivanovna, Zarubin, Aleksei Andreevich, Petrova, Valeria Viktorovna, Minaycheva, Larisa Ivanovna, Seitova, Gulnara Narimanovna, Skryabin, Nikolay Alekseevich, Stepanov, Vadim Anatolevich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095092/
https://www.ncbi.nlm.nih.gov/pubmed/37047644
http://dx.doi.org/10.3390/ijms24076672

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095092/
https://www.ncbi.nlm.nih.gov/pubmed/37047644
http://dx.doi.org/10.3390/ijms24076672

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