Case report: A novel biallelic FTO variant causing multisystem anomalies with severe epilepsy, widening the spectrum of FTO 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.2...

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Detalles Bibliográficos
Autores principales: Mayman, Naomi, Wei, Jiangbo, Cai, Shangjun, Soman, Rohan, Raynes, Hillary, La Vega-Talbott, Maite, He, Chuan, Naidich, Thomas, Raju, G. Praveen, Kathiresu Nageshwaran, Sathiji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387762/
https://www.ncbi.nlm.nih.gov/pubmed/37529081
http://dx.doi.org/10.1177/2050313X231188883

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387762/
https://www.ncbi.nlm.nih.gov/pubmed/37529081
http://dx.doi.org/10.1177/2050313X231188883

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