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Rare mutation of the CCNO gene in patients with primary ciliary dyskinesia

https://doi.org/10.21508/1027-4065-2018-63-5-83-87

Abstract

Primary ciliary dyskinesia is a rare genetically determined pathology leading to the development of chronic inflammatory lesions of the respiratory system in children, impaired fertile function in older patients. The disease is characterized by an autosomal recessive mode of inheritance with marked genetic heterogeneity. The article describes clinical observation of a patient – carrier of a rare mutation and describes the features of this case.

Conflict of interest: The authors of this article confirmed the lack of conflict of interest and financial support, which should be reported.

About the Authors

A. E. Bogorad
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation


S. E. Dyakova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation


Yu. L. Mizernitskiy
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation


L. V. Sokolova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation


P. P. Zakharov
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation


I. E. Zorina
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation


M. V. Kostyuchenko
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation


P. A. Shatokha
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation


References

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Review

For citations:


Bogorad A.E., Dyakova S.E., Mizernitskiy Yu.L., Sokolova L.V., Zakharov P.P., Zorina I.E., Kostyuchenko M.V., Shatokha P.A. Rare mutation of the CCNO gene in patients with primary ciliary dyskinesia. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2018;63(6):83-87. (In Russ.) https://doi.org/10.21508/1027-4065-2018-63-5-83-87

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ISSN 1027-4065 (Print)
ISSN 2500-2228 (Online)