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Article

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

International journal of molecular sciences - 3 Apr 2023

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

Abstract excerpt

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 manifestation occurred first at 12 weeks of age as a shoulder joint...

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Identifiers

PMID: 37047644
DOI: 10.3390/ijms24076672
PMCID: PMC10095092

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Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI.PMID 37047644Read ↗

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