Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome-Reference-Cited by-同舟云学术

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

Published:2016-06-02 Issue:6 Volume:90 Page:550-555
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Putoux A.¹²,Alqahtani A.¹,Pinson L.³,Paulussen A.D.C.⁴⁵,Michel J.¹,Besson A.²,Mazoyer S.²,Borg I.⁶,Nampoothiri S.⁷,Vasiljevic A.⁸,Uwineza A.⁹,Boggio D.¹,Champion F.¹⁰,de Die-Smulders C.E.⁴⁵,Gardeitchik T.¹¹,van Putten W.K.¹²,Perez M.J.¹³,Musizzano Y.¹⁴,Razavi F.¹⁵,Drunat S.¹⁶,Verloes A.¹⁶,Hennekam R.¹⁷,Guibaud L.¹⁸,Alix E.¹,Sanlaville D.¹²,Lesca G.¹²,Edery P.¹²

Affiliation:

1. Service de Génétique; Hospices Civils de Lyon; Lyon France

2. Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292; Université Claude Bernard Lyon 1; Lyon France

3. Département de Génétique Médicale; Centre Hospitalier Universitaire; Montpellier France

4. Department of Clinical Genetics; Maastricht University Medical Centre; Maastricht the Netherlands

5. School for Oncology & Developmental Biology (GROW); Maastricht University Medical Centre; Maastricht the Netherlands

6. Department of Pathology, University of Malta; Medical Genetics Unit, Mater Dei Hospital; Malta

7. Department of Paediatric Genetics; Amrita Institute of Medical Sciences and Research Centre; Cochin India

8. Centre de Pathologie et Neuropathologie Est; Hospices Civils de Lyon; Lyon France

9. Centre for Medical Genetics, College of Medicine and Health Sciences; University of Rwanda; Huye Rwanda

10. Service de Gynécologie-Obstétrique; Hospices Civils de Lyon; Lyon France

11. Department of Human Genetics; Radboud University Medical Centre; Nijmegen the Netherlands

12. Paediatric Intensive Care Unit; Radboud University Medical Centre; Nijmegen the Netherlands

13. Département de Génétique Médicale, Unité de fœtopathologie; Centre Hospitalier Universitaire; Montpellier France

14. Département de Pathologie Tissulaire et Cellulaire des tumeurs, Pôle Biologie Pathologie; Centre Hospitalier Universitaire; Montpellier France

15. Département de Génétique Histologie-Embryologie-Cytogénétique; Hôpital Necker-Enfant Malade; Paris France

16. Department of Genetics; APHP-Robert DEBRE University Hospital, and Paris-Diderot University; Paris France

17. Department of Paediatrics, Academic Medical Centre; University of Amsterdam; Amsterdam the Netherlands

18. Département d'Imagerie Pédiatrique et Fœtale, Centre Pluridisciplinaire de Diagnostic Prénatal; Hôpital Femme Mère Enfant; Lyon-Bron France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12781/fullpdf

Reference19 articles.

1. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA;Edery;Science,2011

2. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I;He;Science,2011

3. Splicing of a rare class of introns by the U12-dependent spliceosome;Will;Biol Chem,2005

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

5. New connections between splicing and human disease;Padgett;Trends Genet,2012

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