Case report: A novel biallelic variant causing multisystem anomalies with severe epilepsy, widening the spectrum of syndrome

Case report: A novel biallelic variant causing multisystem anomalies with severe epilepsy, widening the spectrum of syndrome

The fat mass and obesity-associated gene ( FTO ) codes for a DNA/RNA demethylase. Pathological variants in this gene are rare, with only three reports in the literature, all with mutations in the catalytic domain. We report the first biallelic human variant in fat mass and obesity-associated gene (c...

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Bibliographic Details
Main Authors: Naomi Mayman, Jiangbo Wei, Shangjun Cai, Rohan Soman, Hillary Raynes, Maite La Vega-Talbott, Chuan He, Thomas Naidich, G. Praveen Raju, Sathiji Kathiresu Nageshwaran
Format: Article
Language:English
Published: SAGE Publishing 2023-07-01
Series:SAGE Open Medical Case Reports
Online Access:https://doi.org/10.1177/2050313X231188883

Internet

https://doi.org/10.1177/2050313X231188883

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