换一批
换一批Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
作者：
Médéric,Jeanne [1]
;
Hélène,Demory [2]
;
Aubin,Moutal [3]
;
Marie-Laure,Vuillaume [1]
;
Sophie,Blesson [4]
;
Rose-Anne,Thépault [2]
;
Sylviane,Marouillat [2]
;
Judith,Halewa [2]
;
Saskia M,Maas [5]
;
M Mahdi,Motazacker [6]
;
Grazia M S,Mancini [7]
;
Marjon A,van Slegtenhorst [7]
;
Avgi,Andreou [8]
;
Helene,Cox [8]
;
Julie,Vogt [8]
;
Jason,Laufman [9]
;
Natella,Kostandyan [10]
;
Davit,Babikyan [10]
;
Miroslava,Hancarova [11]
;
Sarka,Bendova [11]
;
Zdenek,Sedlacek [11]
;
Kimberly A,Aldinger [12]
;
Elliott H,Sherr [13]
;
Emanuela,Argilli [13]
;
Eleina M,England [14]
;
Séverine,Audebert-Bellanger [15]
;
Dominique,Bonneau [16]
;
Estelle,Colin [16]
;
Anne-Sophie,Denommé-Pichon [17]
;
Brigitte,Gilbert-Dussardier [18]
;
Bertrand,Isidor [19]
;
Sébastien,Küry [19]
;
Sylvie,Odent [20]
;
Richard,Redon [21]
;
Rajesh,Khanna [3]
;
William B,Dobyns [22]
;
Stéphane,Bézieau [19]
;
Jérôme,Honnorat [23]
;
Bernhard,Lohkamp [24]
;
Annick,Toutain [1]
;
Frédéric,Laumonnier [25]
作者单位：
UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France; Service de Génétique, Centre Hospitalier Universitaire, 37044 Tours, France.
[1]
UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.
[2]
Department of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ 85724, USA.
[3]
Service de Génétique, Centre Hospitalier Universitaire, 37044 Tours, France.
[4]
Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
[5]
Department of Clinical Genetics, Laboratory of Genome Diagnostics, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.
[6]
Department of Clinical Genetics, Erasmus MC University Medical Center, 30125 CN Rotterdam, the Netherlands.
[7]
West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham BT15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham BT15 2TG, UK.
[8]
Department of Clinical Genetics, Akron Children's Hospital, Akron, OH 44308-1062, USA.
[9]
Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, and Center of Medical Genetics and Primary Health Care, Yerevan 0001, Armenia.
[10]
Department of Biology and Medical Genetics, Charles University 2(nd) Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.
[11]
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
[12]
Departments of Neurology and Pediatrics, Weill Institute of Neuroscience and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA 94158, USA.
[13]
Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
[14]
Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Régional Universitaire, 29200 Brest, France.
[15]
Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, University of Angers, 49933 Angers, France.
[16]
Centre Hospitalier Universitaire de Dijon, UMR Inserm 1231, Team Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France.
[17]
Service de Génétique, Centre Hospitalier Universitaire, 86021 Poitiers, France; Equipe d'Accueil 3808, Université de Poitiers, 86034 Poitiers, France.
[18]
Service de Génétique Médicale, Centre Hospitalier Universitaire, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
[19]
Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de Causes Rares, Centre de Référence Anomalies du Développement, Centre Labellisé pour les Anomalies du Développement Ouest, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; Institut de Génétique et Développement de Rennes, CNRS, UMR 6290, Université de Rennes, 35043 Rennes, France.
[20]
Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
[21]
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98015, USA.
[22]
French Reference Center on Autoimmune Encephalitis, Hospices Civils de Lyon, Institut NeuroMyoGene, Inserm U1217/CNRS UMR 5310, Université de Lyon, Université Claude Bernard Lyon 1, 69008 Lyon, France.
[23]
Division of Molecular Structural Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.
[24]
UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France; Service de Génétique, Centre Hospitalier Universitaire, 37044 Tours, France. Electronic address: frederic.laumonnier@inserm.fr.
[25]
主题词
成年人(Adult);小脑(Cerebellum);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);人类(Humans);水解酶类(Hydrolases);男(雄)性(Male);微管相关蛋白质类(Microtubule-Associated Proteins);模型, 分子(Models, Molecular);突变, 误义(Mutation, Missense);微管蛋白(Tubulin);青年人(Young Adult)
DOI
10.1016/j.ajhg.2021.04.004
PMID
33894126
发布时间
2022-11-11
- 浏览7
American journal of human genetics
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