换一批
换一批Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
作者：
Lydia,Sagath [1]
;
Kirsi,Kiiski [2]
;
Kireshnee,Naidu [3]
;
Krutik,Patel [4]
;
Per Harald,Jonson [1]
;
Milla,Laarne [1]
;
Djurdja,Djordjevic [5]
;
Grace,Yoon [6]
;
Anna,LaGroon [7]
;
Curtis,Rogers [7]
;
Maureen Kelly,Galindo [8]
;
Katalin,Scherer [9]
;
Erdmute,Kunstmann [10]
;
Erkan,Koparir [11]
;
Desirée,Ho [12]
;
Mark,Davis [12]
;
Purwa,Joshi [13]
;
Alexander,Zygmunt [14]
;
Rotem,Orbach [15]
;
Sandra,Donkervoort [15]
;
Carsten G,Bönnemann [15]
;
Marco,Savarese [1]
;
Andoni,Echaniz-Laguna [16]
;
Valérie,Biancalana [17]
;
Casie A,Genetti [18]
;
Susan T,Iannaccone [19]
;
Alan H,Beggs [18]
;
Carina,Wallgren-Pettersson [1]
;
Franclo,Henning [3]
;
Katarina,Pelin [20]
;
Vilma-Lotta,Lehtokari [1]
作者单位：
Folkhälsan Research Center, Helsinki, Finland.;Department of Medical Genetics, Medicum, University of Helsinki, Finland.
[1]
Folkhälsan Research Center, Helsinki, Finland.;Laboratory of Genetics, Division of Genetics and Clinical Pharmacology, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
[2]
Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
[3]
Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, United Kingdom.
[4]
Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
[5]
Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.;Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
[6]
Greenville Office Greenwood Genetic Center, Greenville, SC, USA.
[7]
Children's Clinics for Rehabilitative Services, Tucson, AZ, USA.
[8]
Department of Neurology, University of Arizona, Tucson, AZ, USA.
[9]
Praxis für Humangenetik, Julius-Maximilians-University Würzburg, Germany.
[10]
Institute for Human Genetics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany.
[11]
Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands WA 6008, Australia.
[12]
Department of Neurology, Wellington Regional Hospital, Wellington, New Zealand.
[13]
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
[14]
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
[15]
Department of Neurology, APHP, CHU de Bicêtre, Le Kremlin-Bicêtre, 94275, France.;French National Reference Center for Rare Neuropathies (CERAMIC), Le Kremlin-Bicêtre, 94275, France.;INSERM U1195, Paris-Saclay University, Le Kremlin-Bicêtre, 94276, France.
[16]
Laboratoire de Diagnostic Génétique CHRU de Strasbourg, Strasbourg, France.
[17]
The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
[18]
Department of Pediatrics and Neurology, UT Southwestern Medical Center, Dallas, TX, USA.
[19]
Folkhälsan Research Center, Helsinki, Finland.;Department of Medical Genetics, Medicum, University of Helsinki, Finland.;Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.
[20]
DOI
10.1101/2024.10.04.24313542
PMID
39802796
发布时间
2025-02-05
- 浏览0
medRxiv
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