Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI
Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI
About this item
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Author / Creator
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 and Stepanov, Vadim Anatolevich
Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
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 patient with multiple fractures. The disease manifes...
Alternative Titles
Full title
Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10095092
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10095092
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms24076672
