Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Saved in:
| Title: | Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia. |
|---|---|
| Authors: | Schröder S; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany., Li Y; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Yigit G; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Altmüller J; Cologne Center for Genomics, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Bevot A; Department of Pediatric Neurology, University Hospital Tübingen, Tübingen, Germany., Biskup S; Praxis für Humangenetik Tübingen, Tübingen, Germany., Dreha-Kulaczewski S; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany., Christoph Korenke G; Department of Pediatric Neurology, University Hospital Oldenburg, Oldenburg, Germany., Kottke R; Department of Diagnostic Imaging, University Children's Hospital, Zurich, Switzerland., Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Preisel M; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Toelle SP; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland., Wente-Schulz S; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School Children's Hospital, Hannover, Germany., Wortmann SB; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Hahn H; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Boltshauser E; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland., Uhmann A; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Wollnik B; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany. kbrock@med.uni-goettingen.de. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 341-351. Date of Electronic Publication: 2020 Oct 07. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
Be the first to leave a comment!
