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

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 17q25...

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Bibliographic Details
Main Authors:	Favaro, F, Alvizi, L, Zechi-Ceide, R, Bertola, D, Felix, T, de Souza, J, Raskin, S, Twigg, SR, Weiner, A, Armas, P, Margarit, E, Calcaterra, N, Andersen, G, McGowan, S, Wilkie, A, Richieri-Costa, A, de Almeida, M, Passos-Bueno, MR
Format:	Journal article
Language:	English
Published:	2014

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

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