Publications by authors named "Anastasiia L Kungurtseva"
Biological age is a personalized measure of the health status of an organism, organ, or system, as opposed to simply accounting for chronological age. To date, there have been known attempts to create estimators of biological age based on various biomedical data. In this work, we focused on developing an approach for assessing heart biological age using echocardiographic data.
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- Bi-allelic pathogenic variations in a specific gene are linked to various hereditary disorders, including the rare Wiedemann-Rautenstrauch syndrome (WRS), which shows neonatal symptoms like growth issues and distinctive facial features.
- This study details a clinical case of a 7-year-old girl with WRS, where whole-exome sequencing revealed a novel missense variant and two intronic variants associated with the condition.
- The findings confirm the pathogenic nature of these genetic changes, contributing to the understanding of POLR3A-related disorders and highlighting the need for further research in the area.