Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome-Reference-Cited by-同舟云学术

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome

Published:2015-04-21 Issue:7 Volume:167 Page:1587-1592
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bourchany A.¹,Giurgea I.²,Thevenon J.³,Goldenberg A.⁴,Morin G.⁵,Bremond-Gignac D.⁶,Paillot C.⁷,Lafontaine P. O.⁷,Thouvenin D.⁸,Massy J.⁹,Duncombe A.⁹,Thauvin-Robinet C.³,Masurel-Paulet A.³,Chehadeh S. El³,Huet F.¹,Bron A.⁷,Creuzot-Garcher C.⁷,Lyonnet S.¹⁰,Faivre L.³

Affiliation:

1. Département de Pédiatrie 1, Hôpital d'Enfants; CHU Dijon et Université de Bourgogne; Dijon France

2. Service de Biochimie Génétique, AP-HP, Université Paris-Est; Hôpital Henri Mondor; Créteil France

3. Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs; FHU TRANSLAD; Hôpital d'Enfants; CHU Dijon et Université de Bourgogne; Dijon France

4. Unité de Génétique Clinique, Hôpital Charles Nicolle; Université de Rouen; France

5. Centre d'activité de génétique clinique et oncogénétique, Hôpital Sud; Université de Picardie Jules Verne; Amiens France

6. Service d'Ophtalmologie, centre Saint-Victor, CHU d'Amiens; Université de Picardie Jules-Verne; Amiens France

7. Service d'Ophtalmologie; CHU Dijon et Université de Bourgogne; Dijon France

8. Clinique Saint Nicolas; Toulouse; France

9. Service d'Ophtalmologie, Hôpital Charles Nicolle; Université de Rouen; France

10. Service de Génétique Médicale, Hôpital Necker-Enfants Malades; Université René-Descartes Paris 5; France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36898/fullpdf

Reference13 articles.

1. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2;Ariss;Ophthalmic Genet,2012

2. Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the “Mowat-Wilson” syndrome;Bassez;Neurobiol Dis,2004

3. ZFHX1B mutations in patients with Mowat-Wilson syndrome;Dastot-Le;Human Mutation,2007

4. Expression of the SMADIP1 gene during early human development;Espinosa-Parrilla;MechDev,2002

5. Mowat-Wilson syndrome;Garavelli;Orphanet J Rare Dis,2007

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