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Several malformations of brain are caused by mutation in TUBB3, case report
https://doi.org/10.25557/2073-7998.2020.04.62-63
Abstract
We present clinical description of the case of brain malformations and molecular diagnostics results. Sporadic mutation c.533C> T (p.Thr178Met) of the TUBB3 gene was detected.
About the Authors
O. L. Zobikova
Republican Scientific Practical Centre «Mother and Child», Ministry of Health, Belarus
Russian Federation
Russian Federation
I. V. Naumhcik
Republican Scientific Practical Centre «Mother and Child», Ministry of Health, Belarus
Russian Federation
Russian Federation
Review
For citations:
Zobikova O.L., Naumhcik I.V. Several malformations of brain are caused by mutation in TUBB3, case report. Medical Genetics. 2020;19(4):62-63. (In Russ.) https://doi.org/10.25557/2073-7998.2020.04.62-63
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