Publications

Miller EE et al. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome. Hum Mol Genet.2017; 26(12):2177-2191. PMID: 28334780.

Bertola D R et al. Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.Clin Genet. 2018; 93(4):800-811. PMID: 29112243.

Favaro F P et al. Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases.Am J Med Genet. 2011;155A(2):322-31. PMID: 21271648.

Favaro FP et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.Am J Med Genet. 2014;94(1):120-8. PMID: 24360810.

Golbert MB et al. New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. Clin Dysmorphol. 2007;16:85–88. PMID: 17351350.

Graziadio C et al. Richieri-Costa and Pereira form of acrofacial dysostosis: First description of an adult with mesomelic shortness of the lower limbs. Am J Med Genet. 2009; 149A:2886–2888. PMID: 19938093.

Hsia GSP et al. Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. Front Genet. 2018;9:149. PMID: 29922329.

Miguel H C et al. Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings. Am J Med Genet. 2012;158A(8):1967-70. PMID: 22711187.

Pinto R O et al. Cephalometric findings in nine individuals with Richieri-Costa-Pereira Syndrome. J Craniofac Surg. 2018;29(6):1596-1600. PMID: 29863549.

Raskin S et al. Richieri-Costa and Pereira syndrome: severe phenotype.Am J Med Genet. 2013; 161A(8):1999-2003. PMID: 23794199.

Richieri-Costa A, Pereira SCS. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies and clubfoot: A new autosomal recessive syndrome.Am J Med Genet. 1992; 42:681–687. PMID: 1632438.

Richieri-Costa A, Pereira SCS. Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies and clubfeet in male patients. Am J Med Genet. 1993;47:707–709. PMID: 8267000.

Richieri-Costa A, Brandão-Almeida IL. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: Another affected Brazilian patient born to consanguineous parents. Am J Med Genet. 1997; 71:233–235. PMID: 9217230.

Souza J et al. The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature. Am J Med Genet. 2011;155A(5):1173-7. PMID: 21485002.

Walter-Nicolet E et al. The Richieri-Costa and Pereira form of acrofacial dysostosis: First case in a non-Brazilian infant.Am J Med Genet. 1999;87:430–433. PMID: 10594883.

Pardo M P et al. Craniofacial Features in Richieri-Costa-Pereira Syndrome.Cleft Palate Craniofac J. 2021;58(11):1370-1375. PMID: 33504197.