Disease: Richieri Costa Pereira syndrome
- 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