换一批Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
第一作者：
Gabriella,Vera
第一单位：
Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
作者：
Gabriella,Vera [1]
;
Arthur,Sorlin [2]
;
Geoffroy,Delplancq [2]
;
François,Lecoquierre [1]
;
Marie,Brasseur-Daudruy [3]
;
Florence,Petit [4]
;
Thomas,Smol [5]
;
Alban,Ziegler [6]
;
Dominique,Bonneau [6]
;
Estelle,Colin [6]
;
Sandra,Mercier [7]
;
Benjamin,Cogné [7]
;
Stéphane,Bézieau [7]
;
Patrick,Edery [8]
;
Gaetan,Lesca [8]
;
Nicolas,Chatron [8]
;
Isabelle,Sabatier [9]
;
Bénédicte,Duban-Bedu [10]
;
Cindy,Colson [11]
;
Amélie,Piton [12]
;
Benjamin,Durand [12]
;
Yline,Capri [13]
;
Laurence,Perrin [13]
;
Antje,Wiesener [14]
;
Christiane,Zweier [14]
;
Reza,Maroofian [15]
;
Christopher J,Carroll [16]
;
Hamid,Galehdari [17]
;
Neda,Mazaheri [18]
;
Bert,Callewaert [19]
;
Fabienne,Giulianno [20]
;
Khaoula,Zaafrane-Khachnaoui [21]
;
Rebecca,Buchert-Lo [22]
;
Tobias,Haack [22]
;
Janine,Magg [23]
;
Angelika,Rieß [22]
;
Maria,Blandfort [24]
;
Stephan,Waldmüller [22]
;
Veronka,Horber [23]
;
Emanuela,Leonardi [25]
;
Roberta,Polli [25]
;
Licia,Turolla [26]
;
Alessandra,Murgia [27]
;
Thierry,Frebourg [1]
;
Anne Sophie,Lebre [28]
;
Gaël,Nicolas [1]
;
Pascale,Saugier-Veber [1]
;
Anne-Marie,Guerrot [29]
作者单位：
Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
[1]
Centre de Génétique, CHU Dijon Bourgogne, Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, INSERM 1231, Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.
[2]
Pediatric Radiology, Rouen University Hospital, F76000, Rouen, France.
[3]
Univ. Lille, RADEME EA7364, CHU Lille, Clinique de Génétique Guy Fontaine, F59000, Lille, France.
[4]
Univ. Lille, RADEME EA7364, CHU Lille, Institut de Génétique Médicale, F59000, Lille, France.
[5]
Department of Biochemistry and Genetics, University Hospital, 49933, Angers Cedex 9, France; MitoLab Team, Institut MitoVasc, UMR CNRS6015, INSERM U1083, 49933, Angers Cedex 9, France.
[6]
Service de génétique médicale, CHU Nantes, Nantes, France; L'institut du thorax, INSERM, CNRS, Université de Nantes, Nantes, France.
[7]
Service de Génétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs Centre Est- HCL, Lyon, France.
[8]
Department of Pediatric Neurology, Lyon University Hospitals, Lyon, France.
[9]
Cytogenetics Service, Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France.
[10]
Service de Génétique, CHU de Caen - Hôpital Clémenceau, Caen, France.
[11]
Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
[12]
Department of Genetics, APHP-Robert DEBRE University Hospital, Denis Diderot School of Medicine, Paris University, France.
[13]
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
[14]
Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
[15]
Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK.
[16]
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
[17]
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
[18]
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
[19]
Medical Genetics Unit 2, L'Archet Hospital, Nice, France; Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland.
[20]
Medical Genetics Unit 2, L'Archet Hospital, Nice, France.
[21]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
[22]
Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.
[23]
Praxis fuer Neuropaediatrie und humangenetische Beratung, Landau, Germany.
[24]
Molecular Genetics of Neurodevelopment, Dept. of Woman and Child Health, University of Padova, Padova, Italy; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy.
[25]
Medical Genetics Unit, Local Health Authority (ULSS2), Treviso, Italy.
[26]
Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy; Medical Genetics Unit, Local Health Authority (ULSS2), Treviso, Italy.
[27]
Department of Genetics, Reims University Hospital, Reims, France.
[28]
Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France. Electronic address: anne-marie.guerrot@chu-rouen.fr.
[29]
主题词
青少年(Adolescent);成年人(Adult);脑(Brain);儿童(Child);儿童, 学龄前(Child, Preschool);面部(Face);女(雌)性(Female);GATA转录因子类(GATA Transcription Factors);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);婴儿(Infant);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);肌张力过低(Muscle Hypotonia);表型(Phenotype);妊娠(Pregnancy);阻遏蛋白质类(Repressor Proteins);序列缺失(Sequence Deletion);言语障碍(Speech Disorders)
DOI
10.1016/j.ejmg.2020.104004
PMID
32688057
发布时间
2021-12-04
- 浏览1
European journal of medical genetics
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