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Article

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

American journal of human genetics - 2 Jan 2014

Favaro Francine P, Alvizi Lucas, Zechi-Ceide Roseli M, Bertola Debora, Felix Temis M, de Souza Josiane, Raskin Salmo, Twigg Stephen R F, Weiner Andrea M J, Armas Pablo, Margarit Ezequiel, Calcaterra Nora B, Andersen Gregers R, McGowan Simon J, Wilkie Andrew O M, Richieri-Costa Antonio, de Almeida Maria L G, Passos-Bueno Maria Rita

Abstract excerpt

Richieri-Costa-Pereira syndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft associated with other craniofacial anomalies and severe limb defects. Learning and language disabilities are also prevalent. We mapped the mutated gene to a 122 kb region at 17...

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Identifiers

PMID: 24360810
DOI: 10.1016/j.ajhg.2013.11.020
PMCID: PMC3882729

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24360810-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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