Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32
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DOI: 10.1038/s41431-024-01680-1
Abstract: Despite extensive research into the genetic underpinnings of neurodevelopmental disorders (NDD), many clinical cases remain unresolved. We studied a female proband with a NDD, mildly dysmorphic facial features, and brain stem hypoplasia on neuroimaging. Comprehensive… read more here.
Keywords: involving 5p15; 5p15 2q31; complex chromosomal; genomic balancing ... See more keywords