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作者：
Ariane,Schmetz [1]
;
Hermann-Josef,Lüdecke [2]
;
Harald,Surowy [2]
;
Sugirtahn,Sivalingam [2]
;
Ange-Line,Bruel [3]
;
Roseline,Caumes [4]
;
Perrine,Charles [5]
;
Nicolas,Chatron [6]
;
Krystyna,Chrzanowska [7]
;
Marta,Codina-Solà [8]
;
Cindy,Colson [9]
;
Ivon,Cuscó [10]
;
Anne-Sophie,Denommé-Pichon [5]
;
Patrick,Edery [10]
;
Laurence,Faivre [3]
;
Andrew,Green [4]
;
Solveig,Heide [7]
;
Tzung-Chien,Hsieh [11]
;
Alexander,Hustinx [3]
;
Lotte,Kleinendorst [12]
;
Cordula,Knopp [13]
;
Florian,Kraft [6]
;
Peter M,Krawitz [14]
;
Amaia,Lasa-Aranzasti [14]
;
Gaetan,Lesca [15]
;
Vanesa,López-González [16]
;
Julien,Maraval [16]
;
Cyril,Mignot [14]
;
Teresa,Neuhann [10]
;
Christian,Netzer [7]
;
Barbara,Oehl-Jaschkowitz [8]
;
Florence,Petit [17]
;
Christophe,Philippe [3]
;
Renata,Posmyk [18]
;
Audrey,Putoux [6]
;
André,Reis [19]
;
María José,Sánchez-Soler [20]
;
Julia,Suh [21]
;
Tinatin,Tkemaladze [22]
;
Frédéric,Tran Mau Them [5]
;
André,Travessa [3]
;
Laura,Trujillano [4]
;
Irene,Valenzuela [23]
;
Mieke M,van Haelst [24]
;
Georgia,Vasileiou [7]
;
Catherine,Vincent-Delorme [11]
;
Mona,Walther [25]
;
Pablo,Verde [26]
;
Nuria C,Bramswig [17]
;
Dagmar,Wieczorek [16]
作者单位：
Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany. ariane.schmetz@hhu.de.
[1]
Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany.
[2]
Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.
[3]
Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France.
[4]
CHU Lille, Clinique de Génétique, 59000, Lille, France.
[5]
Assistance Publique-Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
[6]
Service de Génétique, Hospices Civils de Lyon, Bron, France.
[7]
Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France.
[8]
Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
[9]
Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain.
[10]
Centre de Recherche en Neurosciences de Lyon, Equipe GENDEV, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France.
[11]
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD et Institut GIMI, Dijon Bourgogne University Hospital, 21000, Dijon, France.
[12]
Department of Clinical Genetics, Children's Health Ireland at Crumlin, and University College Dublin School of Medicine and Medical Science, Dublin, Ireland.
[13]
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
[14]
Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
[15]
Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074, Aachen, Germany.
[16]
Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain.
[17]
Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon Bourgogne University Hospital, 21000, Dijon, France.
[18]
Medizinisch Genetisches Zentrum, Munich, Germany.
[19]
Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
[20]
Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
[21]
BIOSCIENTIA MVZ Labor Saar, Praxis Für Humangenetik, Homburg Saar, Germany.
[22]
Laboratory of Human Genetics, CHR Metz Thionville, Hôpital Mercy, Metz, France.
[23]
Department of Clinical Genetics, Medical University in Bialystok, Bialystok, Poland.
[24]
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.
[25]
Centre for Rare Diseases Erlangen (ZSEER), 91054, Erlangen, Germany.
[26]
Centre for Rare Diseases Aachen (ZSEA), 52076, Aachen, Germany.
[27]
Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
[28]
Medical Genetics Department, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
[29]
Coordination Centre for Clinical Trials, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany.
[30]
Center for Rare Diseases, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany.
[31]
主题词
成年人(Adult);人类(Humans);儿童(Child);畸形, 多发性(Abnormalities, Multiple);小颌畸形(Micrognathism);手畸形, 先天性(Hand Deformities, Congenital);颈(Neck);表型(Phenotype);DNA解旋酶类(DNA Helicases);核蛋白质类(Nuclear Proteins);转录因子(Transcription Factors);染色体蛋白质类, 非组蛋白(Chromosomal Proteins, Non-Histone);DNA结合蛋白质类(DNA-Binding Proteins);面部(Face)
DOI
10.1007/s00439-023-02622-5
PMID
38117302
发布时间
2024-01-19
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Human genetics
Human genetics
71-84页
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