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A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR. Favaro FP, et al. Among authors: margarit e. Am J Hum Genet. 2014 Jan 2;94(1):120-8. doi: 10.1016/j.ajhg.2013.11.020. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360810 Free PMC article.
Dynamic regulation of Pin1 expression and function during zebrafish development.
Ibarra MS, Borini Etichetti C, Di Benedetto C, Rosano GL, Margarit E, Del Sal G, Mione M, Girardini J. Ibarra MS, et al. Among authors: margarit e. PLoS One. 2017 Apr 20;12(4):e0175939. doi: 10.1371/journal.pone.0175939. eCollection 2017. PLoS One. 2017. PMID: 28426725 Free PMC article.
48 results