Tuberous sclerosis in the Republic of Sakha (Yakutia)
Abstract
A retrospective clinical and genealogical analysis of 20 patients with a diagnosis of tuberous sclerosis was performed. According to the results of molecular genetics diagnostics, 4 different pathogenic variants of the nucleotide sequence in the TSC1, TSC2 genes were identified in 3 unrelated Yakut and 1 Russian family.
About the Authors
V. M. Sofronova
Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
D. A. Petukhova
Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
A. L. Sukhomyasova
Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
N. R. Maksimova
Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Review
For citations:
Sofronova V.M., Petukhova D.A., Sukhomyasova A.L., Maksimova N.R. Tuberous sclerosis in the Republic of Sakha (Yakutia). Medical Genetics. 2020;19(8):24-26. (In Russ.)
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