Using long-read sequencing to detect and subtype a case with Temple syndrome
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DOI: 10.1136/jmg-2024-110262
Abstract: Temple syndrome is an imprinting disorder resulting from abnormal genomic or epigenomic aberrations of chromosome 14 including maternal uniparental disomy (matUPD), paternal deletion of 14q32, or aberrant methylation of the imprinting control regions at 14q32.… read more here.
Keywords: case temple; temple syndrome; methylation; aberrant methylation ... See more keywords