Hereditary diffuse leukoencephalopathy with spheroids (HDLS): first Russian case diagnosed by targeted NGS
https://doi.org/10.1234/XXXX-XXXX-2016-8-30-32
Abstract
HDSL is a rare late-onset dominant disorder produced by CSF1R mutations. Rapidly progressing frontal lobe dementia is a main feature. First Russian case in 41-yеar-old female diagnosed by targeted NGS is an example of method value.
About the Authors
G. E. Rudenskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Yu. S. Itkus
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. M. Kashina
Medical and Rehabilitation Centre
Russian Federation
Russian Federation
E. Yu. Zakharova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Rudenskaya G.E., Itkus Yu.S., Kashina E.M., Zakharova E.Yu. Hereditary diffuse leukoencephalopathy with spheroids (HDLS): first Russian case diagnosed by targeted NGS. Medical Genetics. 2016;15(8):30-32. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-8-30-32
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