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Article

Novel mutation identified in CONT3 causes IDDSADF: a case report and literature review.

The Journal of international medical research - 1 Aug 2024

Pan Mengxiong, Li Hui, Pan Liming, Sun Ru

Abstract excerpt

The carbon catabolite repression 4-negative on TATA-less transcription complex subunit 3 gene (CONT3) plays a key role in regulating the mRNA transcription and protein translation of other genes. Mutations in CONT3 have also recently been implicated as a causative factor of intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF). However, to date, only a few CONT3 mutations...

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Identifiers

PMID: 39216073
DOI: 10.1177/03000605241272533
PMCID: PMC11375633

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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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