Osteogenesis imperfecta in a family with a novel variant in the  COL1A1  gene and gonadal mosaicism: a clinical case

K. G. Zabudskaya; A. E. Voskanyan; R. G. Kuramagomedova; O. P. Ryzhkova

Bulletin of Siberian Medicine
Bûlletenʹ sibirskoj mediciny

ISSN 1682-0363 (Print)
ISSN 1819-3684 (Online)

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Zabudskaya K.G., Voskanyan A.E., Kuramagomedova R.G., Ryzhkova O.P. Osteogenesis imperfecta in a family with a novel variant in the COL1A1 gene and gonadal mosaicism: a clinical case. Bulletin of Siberian Medicine. 2026;25(1):197-201. https://doi.org/10.20538/1682-0363-2026-1-197-201

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ISSN 1682-0363 (Print)
ISSN 1819-3684 (Online)

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About the Authors

K. G. Zabudskaya
N.P. Bochkov Research Center for Medical Genetics
Russian Federation

1 Moskvorechye St., 115522 Moscow, Russian Federation

A. E. Voskanyan
N.P. Bochkov Research Center for Medical Genetics
Russian Federation

1 Moskvorechye St., 115522 Moscow, Russian Federation

R. G. Kuramagomedova
Vetlishchev Research and Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University
Russian Federation

2 Taldomskaya St., 125412 Moscow, Russian Federation

O. P. Ryzhkova
N.P. Bochkov Research Center for Medical Genetics
Russian Federation

1 Moskvorechye St., 115522 Moscow, Russian Federation

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