Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN )-Reference-Cited by-同舟云学术

Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN )

Published:2017-08-17 Issue:11 Volume:38 Page:1477-1484
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Wambach Jennifer A.¹^ORCID,Stettner Georg M.²³,Haack Tobias B.⁴⁵⁶,Writzl Karin⁷,Škofljanec Andreja⁸,Maver Aleš⁷,Munell Francina⁹,Ossowski Stephan⁴¹⁰¹¹,Bosio Mattia¹⁰¹¹,Wegner Daniel J.¹,Shinawi Marwan¹,Baldridge Dustin¹,Alhaddad Bader⁵,Strom Tim M.⁵⁶,Grange Dorothy K.¹,Wilichowski Ekkehard²,Troxell Robin¹²,Collins James¹²,Warner Barbara B.¹¹³,Schmidt Robert E.¹⁴,Pestronk Alan¹⁴¹⁵,Cole F. Sessions¹,Steinfeld Robert²

Affiliation:

1. Edward Mallinckrodt Department of Pediatrics Washington University School of Medicine and St. Louis Children's Hospital St. Louis Missouri

2. Department of Pediatric Neurology University of Göttingen Göttingen Germany

3. Division of Pediatric Neurology University Children's Hospital Zürich Zürich Switzerland

4. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

5. Institute of Human Genetics Technische Universität München Munich Germany

6. Institute of Human Genetics Helmholtz Zentrum München Neuherberg Germany

7. Clinical Institute of Medical Genetics University Medical Centre Ljubljana Ljubljana Slovenia

8. Department of Paediatric Intensive Care University Medical Centre Ljubljana Ljubljana Slovenia

9. Neuromuscular Unit Pediatric Neurology Department Vall d'Hebron University Hospital‚ Vall d'Hebron Research Institute Barcelona Spain

10. Centre for Genomic Regulation (CRG) The Barcelona Institute of Science and Technology Barcelona Spain

11. Universitat Pompeu Fabra (UPF) Barcelona Spain

12. Mercy Children's Hospital Springfield Springfield Missouri

13. Fetal Care Center Washington University School of Medicine St. Louis Missouri

14. Department of Pathology and Immunology, Washington University School of Medicine St. Louis Missouri

15. Department of Neurology Washington University School of Medicine St. Louis Missouri

Funder

National Institutes of Health

“la Caixa” Foundation

Children's Discovery Institute

National Heart, Lung, and Blood Institute

Saigh Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23297

Reference25 articles.

1. A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx

2. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

3. A framework for variation discovery and genotyping using next-generation DNA sequencing data

4. Antibodies to Gliomedin Cause Peripheral Demyelinating Neuropathy and the Dismantling of the Nodes of Ranvier

5. Gliomedin Mediates Schwann Cell-Axon Interaction and the Molecular Assembly of the Nodes of Ranvier

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