Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN
)
- Wambach, Jennifer A. ORCID Edward Mallinckrodt Department of Pediatrics; Washington University School of Medicine and St. Louis Children's Hospital; St. Louis Missouri
- Stettner, Georg M. Division of Pediatric Neurology; University Children's Hospital Zürich; Zürich Switzerland
- Haack, Tobias B. Institute of Human Genetics; Helmholtz Zentrum München; Neuherberg Germany
- Writzl, Karin Clinical Institute of Medical Genetics; University Medical Centre Ljubljana; Ljubljana Slovenia
- Škofljanec, Andreja Department of Paediatric Intensive Care; University Medical Centre Ljubljana; Ljubljana Slovenia
- Maver, Aleš Clinical Institute of Medical Genetics; University Medical Centre Ljubljana; Ljubljana Slovenia
- Munell, Francina Neuromuscular Unit; Pediatric Neurology Department; Vall d'Hebron University Hospital‚; Vall d'Hebron Research Institute; Barcelona Spain
- Ossowski, Stephan Universitat Pompeu Fabra (UPF); Barcelona Spain
- Bosio, Mattia Universitat Pompeu Fabra (UPF); Barcelona Spain
- Wegner, Daniel J. Edward Mallinckrodt Department of Pediatrics; Washington University School of Medicine and St. Louis Children's Hospital; St. Louis Missouri
- Shinawi, Marwan Edward Mallinckrodt Department of Pediatrics; Washington University School of Medicine and St. Louis Children's Hospital; St. Louis Missouri
- Baldridge, Dustin Edward Mallinckrodt Department of Pediatrics; Washington University School of Medicine and St. Louis Children's Hospital; St. Louis Missouri
- Alhaddad, Bader Institute of Human Genetics; Technische Universität München; Munich Germany
- Strom, Tim M. Institute of Human Genetics; Helmholtz Zentrum München; Neuherberg Germany
- Grange, Dorothy K. Edward Mallinckrodt Department of Pediatrics; Washington University School of Medicine and St. Louis Children's Hospital; St. Louis Missouri
- Wilichowski, Ekkehard Department of Pediatric Neurology; University of Göttingen; Göttingen Germany
- Troxell, Robin Mercy Children's Hospital Springfield; Springfield Missouri
- Collins, James Mercy Children's Hospital Springfield; Springfield Missouri
- Warner, Barbara B. Fetal Care Center; Washington University School of Medicine; St. Louis Missouri
- Schmidt, Robert E. Department of Pathology and Immunology, Washington University School of Medicine; St. Louis Missouri
- Pestronk, Alan Department of Neurology; Washington University School of Medicine; St. Louis Missouri
- Cole, F. Sessions Edward Mallinckrodt Department of Pediatrics; Washington University School of Medicine and St. Louis Children's Hospital; St. Louis Missouri
- Steinfeld, Robert Department of Pediatric Neurology; University of Göttingen; Göttingen Germany
- 2017-8-17
Published in:
- Human Mutation. - Wiley. - 2017, vol. 38, no. 11, p. 1477-1484
- Language
-
- English
- Open access status
- green
- Identifiers
-
- DOI 10.1002/humu.23297
- ISSN 1059-7794
- Persistent URL
- https://sonar.ch/global/documents/208480
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