Identification of a novel AGO2 variant causing LESKRES in a Chinese family with intellectual disability
BackgroundLessel-Kreienkamp syndrome (LESKRES, MIM #619149), an autosomal dominant genetic disorder caused by variants in AGO2 (MIM*606229), primarily leads to neurodevelopmental symptoms.ObjectiveThis study aims to investigate the genetic etiology of a family with intellectual disability.MethodsWho...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1598462/full |
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