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Article

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.

Cold Spring Harbor molecular case studies - 1 Jun 2021

Singh Ram, Cohen Ana S A, Poulton Cathryn, Hjortshøj Tina Duelund, Akahira-Azuma Moe, Mendiratta Geetu, Khan Wahab A, Azmanov Dimitar N, Woodward Karen J, Kirchhoff Maria, Shi Lisong, Edelmann Lisa, Baynam Gareth, Scott Stuart A, Jabs Ethylin Wang

Abstract excerpt

The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ERF variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, ERF...

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Identifiers

PMID: 34117072
DOI: 10.1101/mcs.a005991
PMCID: PMC8208047

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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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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.PMID 34117072Read ↗

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