The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
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| Title: | The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. |
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| 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., Yigit G; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Li Y; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Altmüller J; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Facility Genomics, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Büttel HM; MVZ Genetikum GmbH, Stuttgart, Germany., Fiedler B; Division of Neuropediatrics, Department of General Pediatrics, University Hospital Münster, Münster, Germany., Kretzschmar C; Sozialpädiatrisches Zentrum, Städtisches Klinikum Dresden, Dresden, Germany., Nürnberg P; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Seeger J; Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany., Serpieri V; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., 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., Boltshauser E; Department of Pediatric Neurology (Emeritus), University Children's Hospital, Zurich, Switzerland., 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: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 02; Vol. 18 (1), pp. 101. Date of Electronic Publication: 2023 May 02. |
| Publication Type: | Observational Study; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-023-02706-5 |
