Osteogenesis imperfecta: a literature review and a clinical case of a perinatal-lethal type of disease

Osteogenesis imperfecta: a literature review and a clinical case of a perinatal-lethal type of disease

The article presents the modern views of clinicians and geneticists on one of the most severe genetic disorders of skeletal and connective tissues - osteogenesis imperfecta. The review provided the literature data that showed the incidence rates, genetic heterogeneity of osteogenesis imperfecta, as...

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Bibliographic Details
Main Authors: L. Ya. Klimov, T. M. Vdovina, V. A. Pechenkina, T. V. Zhelezniakova, I. N. Zakharova, S. V. Dolbnya, V. A. Kuryaninova, A. V. Kastarnov, D. A. Shmalko, R. O. Tsutsaev, Yu. V. Bykov
Format: Article
Language:Russian
Published: Remedium Group LLC 2021-11-01
Series:Медицинский совет
Subjects:
osteogenesis imperfecta
congenital fractures
antenatal diagnostics
medical and genetic counselling
rare mutation in col1a1 gene
Online Access:https://www.med-sovet.pro/jour/article/view/6505

Internet

https://www.med-sovet.pro/jour/article/view/6505

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