NeuroscienceActa NeuropathologicaPeer-reviewed
Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay
Katja Kobow, Samir Jabari, Tom Pieper…·Andreas von Deimling
The paper identifies a chromosomal duplication of chromosome 1q in a subset of polymicrogyria patients, associated with specific clinical features and distinct DNA methylation patterns.
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