Clinical and Genetic Findings in Two Japanese Individuals With SET-Related Neurodevelopmental Disorder.

Abstract excerpt

SET-related neurodevelopmental disorder (OMIM #618106) is an emerging condition for which the phenotypic spectrum remains incompletely defined. We report two unrelated Japanese individuals with distinct genomic alterations affecting SET: a de novo frameshift variant and a heterozygous 9q34.11 microdeletion encompassing the gene. Both individuals presented with global developmental delay, intellectual disability,...

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