Nager syndrome: confirmation ofSF3B4haploinsufficiency as the major cause-Reference-Cited by-同舟云学术

Nager syndrome: confirmation ofSF3B4haploinsufficiency as the major cause

Published:2013-09-12 Issue:3 Volume:86 Page:246-251
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Petit F.¹²³,Escande F.²,Jourdain A.S.²,Porchet N.²³,Amiel J.⁴⁵,Doray B.⁶,Delrue M.A.⁷,Flori E.⁶,Kim C.A.⁸,Marlin S.⁹,Robertson S.P.¹⁰,Manouvrier-Hanu S.¹³,Holder-Espinasse M.¹³¹¹

Affiliation:

1. Service de Génétique Clinique; Hôpital Jeanne de Flandre, CHRU Lille; Lille France

2. Laboratoire de Biologie Moléculaire; Centre de Biologie Pathologie, CHRU Lille; Lille France

3. Université Lille Nord de France

4. Département de Génétique; Hôpital Necker-Enfants Malades, AP-HP; Paris France

5. Unité INSERM U781; Faculté Paris-Descartes, Institut IMAGINE; Paris France

6. Service de génétique médicale; Hôpital de Hautepierre, CHU Strasbourg; Strasbourg France

7. Service de génétique médicale; Hôpital Pellegrin, CHU Bordeaux; Bordeaux France

8. Instituto da Crianca; Faculdade de Medicina da Universidade de São Paulo; São Paulo Brazil

9. Centre de référence des surdités génétiques, service de génétique médicale; Hôpital Armand Trousseau, APHP; Paris France

10. Clinical Genetics Laboratory, Department of Paediatrics and Child Health; University of Otago; Otago New Zealand

11. Clinical Genetics Department; Guy's Hospital; London UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. Nager acrofacial dysostosis;McDonald;J Med Genet,1993

2. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome;Bernier;Am J Hum Genet,2012

3. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome;Czeschik;Hum Genet,2013

4. The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site;Champion-Arnaud;Genes Dev,1994

5. Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation;Watanabe;J Biol Chem,2007

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