Richieri-Costa-Pereira syndrome
Definition:
References:
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[1]. Francine P Favaro, et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. Am J Hum Genet. 2014 Jan 2;94(1):120-8. [Content Brief]
[2]. Gabriella S P Hsia, et al. Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. Front Genet. 2018 Apr 25;9:149. [Content Brief]
[3]. Kelly N Evans, et al. Robin sequence: from diagnosis to development of an effective management plan. Pediatrics. 2011 May;127(5):936-48. [Content Brief]
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