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A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. by 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
Published 2014Journal article -
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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. by Twigg, SR, Babbs, C, van den Elzen, M, Goriely, A, Taylor, S, McGowan, S, Giannoulatou, E, Lonie, L, Ragoussis, J, Sadighi Akha, E, Knight, S, Zechi-Ceide, R, Hoogeboom, J, Pober, B, Toriello, H, Wall, SA, Rita Passos-Bueno, M, Brunner, H, Mathijssen, I, Wilkie, A
Published 2013Journal article