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Article

Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.

Clinical genetics - 1 Apr 2018

Bertola D R, Hsia G, Alvizi L, Gardham A, Wakeling E L, Yamamoto G L, Honjo R S, Oliveira L A N, Di Francesco R C, Perez B A, Kim C A, Passos-Bueno M R

Abstract excerpt

Richieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5' untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only...

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PMID: 29112243
DOI: 10.1111/cge.13169

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