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Article

Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Russia.

Clinical genetics - 1 Feb 2026

Zaripova Aliya Ramilevna, Nadyrshina Dina Dayanovna, Tyurin Anton Victorovich, Valeeva Diana Ildarovna, Akhiiarova Karina Ericovna, Merkurieva Elena Sergeevna, Markova Tatiana Vladimirovna, Zakharova Yekaterina Yurievna, Khusainova Rita Igorevna

Abstract excerpt

Osteogenesis imperfecta (OI) is a heterogeneous group of genetic diseases characterized by bone fragility and low bone mass. We report the identification of two unrelated families with OI of Bashkir origin-one with homozygous, the other with compound heterozygous probably pathogenic variants of the P3H1 gene, as well as one case of heterozygous carriage in a patient with clinical manifestations that do not...

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PMID: 41499654
DOI: 10.1111/cge.70031

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P3H1

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