Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum-Reference-Cited by-同舟云学术

Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum

Published:2018-02-20 Issue:4 Volume:93 Page:800-811
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Bertola D.R.¹²^ORCID,Hsia G.²,Alvizi L.²,Gardham A.³,Wakeling E.L.⁴,Yamamoto G.L.¹,Honjo R.S.¹,Oliveira L.A.N.¹,Di Francesco R.C.⁵,Perez B.A.⁶,Kim C.A.¹,Passos-Bueno M.R.²

Affiliation:

1. Unidade de Genética, Instituto da Criança; Hospital das Clínicas da FMUSP, Universidade de São Paulo; São Paulo Brazil

2. Instituto Biociências; Universidade de São Paulo; São Paulo Brazil

3. North East Thames Regional Genetics Service; Great Ormond Street Hospital; London UK

4. Clinical Genetics, North West Thames Regional Genetic Service; London, North West London Hospitals NHS Trust; Harrow UK

5. Departamento de Otorrinolaringologia, Hospital das Clínicas da FMUSP; Universidade de São Paulo; São Paulo Brazil

6. Departamento de Genética; Universidade Federal de São Paulo; São Paulo Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13169/fullpdf

Reference19 articles.

1. Human facial dysostoses;Wieczorek;Clin Genet,2013

2. A review of craniofacial disorders caused by spliceosomal defects;Lehalle;Clin Genet,2015

3. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome;Richieri-Costa;Am J Med Genet,1992

4. Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases;Favaro;Am J Med Genet A,2011

5. Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings;Miguel;Am J Med Genet A,2012

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