• A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects
• A review of craniofacial disorders caused by spliceosomal defects
• Amniotic bands and the EEC syndrome
• Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients
• Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome
• Complexity of the 5' Untranslated Region of <em>EIF4A3</em>, a Critical Factor for Craniofacial and Neural Development
• Craniofacial Features in Richieri-Costa-Pereira Syndrome
• Dental anomalies in Richieri-Costa-Pereira syndrome
• EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome
• Generation of a Magoh conditional allele in mice
• Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations)
• Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome
• Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings
• Newly recognized blepharofacioskeletal syndrome
• Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
• Postaxial acrofacial dysostosis: report on two patients
• Richieri-costa and Pereira syndrome: severe phenotype
• Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases
• Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum
• Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome
• The exon junction complex component EIF4A3 is essential for mouse and human cortical progenitor mitosis and neurogenesis
• The exon junction complex component EIF4A3 is essential for mouse and human cortical progenitor mitosis and neurogenesis
• The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature