Clinical case of the new variant in the  COL1A1  gene in the family with osteogenesis imperfecta type I

I. Zh. Zhalsanova; E. A. Fonova; A. A. Zarubin; V. V. Petrova; A. A. Agafonova; G. N. Seitova; N. N. Chekanov; N. A. Skryabin; И. Ж. Жалсанова; Е. А. Фонова; А. А. Зарубин; В. В. Петрова; А. А. Агафонова; Г. Н. Сеитова; Н. Н. Чеканов; Н. А. Скрябин

Medical Genetics
Medicinskaâ genetika

ISSN 2073-7998 (Print)

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Zhalsanova I.Zh., Fonova E.A., Zarubin A.A., Petrova V.V., Agafonova A.A., Seitova G.N., Chekanov N.N., Skryabin N.A. Clinical case of the new variant in the COL1A1 gene in the family with osteogenesis imperfecta type I. Medical Genetics. 2025;24(6):52-54. (In Russ.) https://doi.org/10.25557/2073-7998.2025.06.52-54

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ISSN 2073-7998 (Print)

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About the Authors

I. Zh. Zhalsanova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation