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Article

SET de novo frameshift variants associated with developmental delay and intellectual disabilities.

European journal of human genetics : EJHG - 1 Sept 2018

Richardson Ruth, Splitt Miranda, Newbury-Ecob Ruth, Hulbert Alice, Kennedy Joanna, Weber Astrid

Abstract excerpt

Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in the Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) gene. Variants in the SET gene have not previously been recognised to be associated with human developmental disorders. Here we report detailed phenotypic information and propose that SET...

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Source

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Identifiers

PMID: 29907757
DOI: 10.1038/s41431-018-0199-y
PMCID: PMC6117329

Genes

SET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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