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Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases.
Favaro FP, Zechi-Ceide RM, Alvarez CW, Maximino LP, Antunes LF, Richieri-Costa A, Guion-Almeida ML. Favaro FP, et al. Am J Med Genet A. 2011 Feb;155A(2):322-31. doi: 10.1002/ajmg.a.33806. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271648 Review.
We reported on 16 new Brazilian patients and review findings in 12 previously reported cases (25 apparently unrelated Brazilian families) from Hospital of Rehabilitation of Craniofacial Anomalies, presenting with Richieri-Costa-Pereira syndrome. All pa …
We reported on 16 new Brazilian patients and review findings in 12 previously reported cases (25 apparently unrelated Brazilian families) fr …
The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature.
Souza J, dal Vesco K, Tonocchi R, Closs-Ono MC, Passos-Bueno MR, da Silva-Freitas R. Souza J, et al. Am J Med Genet A. 2011 May;155A(5):1173-7. doi: 10.1002/ajmg.a.33975. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21485002 Review.
Richieri-Costa and Pereira syndrome is a rare autosomal recessive disorder characterized specially by Pierre Robin sequence with cleft mandible and limb anomalies. ...Most patients reported were from Brazil. We describe a brother and sister with Ric …
Richieri-Costa and Pereira syndrome is a rare autosomal recessive disorder characterized specially by Pierre Rob …
A review of craniofacial disorders caused by spliceosomal defects.
Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT. Lehalle D, et al. Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1. Clin Genet. 2015. PMID: 25865758 Review.
Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebro …
Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified i …