换一批Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
第一作者：
Ash,Zawerton
第一单位：
Department of Cellular & Molecular Medicine, Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA.
作者：
Ash,Zawerton [1]
;
Cyril,Mignot [2]
;
Ashley,Sigafoos [3]
;
Patrick R,Blackburn [4]
;
Abdul,Haseeb [5]
;
Kirsty,McWalter [6]
;
Shoji,Ichikawa [7]
;
Caroline,Nava [2]
;
Boris,Keren [2]
;
Perrine,Charles [8]
;
Isabelle,Marey [8]
;
Anne-Claude,Tabet [9]
;
Jonathan,Levy [10]
;
Laurence,Perrin [10]
;
Andreas,Hartmann [11]
;
Gaetan,Lesca [12]
;
Caroline,Schluth-Bolard [12]
;
Pauline,Monin [13]
;
Sophie,Dupuis-Girod [14]
;
Maria J,Guillen Sacoto [6]
;
Rhonda E,Schnur [6]
;
Zehua,Zhu [6]
;
Alice,Poisson [15]
;
Salima,El Chehadeh [16]
;
Yves,Alembik [16]
;
Ange-Line,Bruel [17]
;
Daphné,Lehalle [18]
;
Sophie,Nambot [18]
;
Sébastien,Moutton [18]
;
Sylvie,Odent [19]
;
Sylvie,Jaillard [20]
;
Christèle,Dubourg [21]
;
Yvonne,Hilhorst-Hofstee [22]
;
Tina,Barbaro-Dieber [23]
;
Lucia,Ortega [23]
;
Elizabeth J,Bhoj [24]
;
Diane,Masser-Frye [25]
;
Lynne M,Bird [26]
;
Kristin,Lindstrom [27]
;
Keri M,Ramsey [28]
;
Vinodh,Narayanan [28]
;
Emily,Fassi [29]
;
Marcia,Willing [29]
;
Trevor,Cole [30]
;
Claire G,Salter [31]
;
Rhoda,Akilapa [32]
;
Anthony,Vandersteen [33]
;
Natalie,Canham [34]
;
Patrick,Rump [35]
;
Erica H,Gerkes [35]
;
Jolien S,Klein Wassink-Ruiter [35]
;
Emilia,Bijlsma [35]
;
Mariëtte J V,Hoffer [22]
;
Marcelo,Vargas [36]
;
Antonina,Wojcik [36]
;
Florian,Cherik [37]
;
Christine,Francannet [37]
;
Jill A,Rosenfeld [38]
;
Keren,Machol [38]
;
Daryl A,Scott [39]
;
Carlos A,Bacino [38]
;
Xia,Wang [38]
;
Gary D,Clark [40]
;
Marta,Bertoli [41]
;
Simon,Zwolinski [41]
;
Rhys H,Thomas [42]
;
Ela,Akay [43]
;
Richard C,Chang [44]
;
Rebekah,Bressi [44]
;
Rossana,Sanchez Russo [45]
;
Myriam,Srour [46]
;
Laura,Russell [47]
;
Anne-Marie E,Goyette [48]
;
Lucie,Dupuis [49]
;
Roberto,Mendoza-Londono [49]
;
Catherine,Karimov [50]
;
Maries,Joseph [51]
;
Mathilde,Nizon [52]
;
Benjamin,Cogné [52]
;
Alma,Kuechler [53]
;
Amélie,Piton [54]
;
Deciphering Developmental Disorder
Study [55]
;
Eric W,Klee [56]
;
Véronique,Lefebvre [3]
;
Karl J,Clark [57]
;
Christel,Depienne
作者单位：
Department of Cellular & Molecular Medicine, Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA.
[1]
INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.;AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France.
[2]
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
[3]
Center for Individualized Medicine, Department of Health Science Research, and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
[4]
Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[5]
GeneDx, Gaithersburg, MD, USA.
[6]
Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA.
[7]
AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France.
[8]
Genetics Department, Robert Debré Hospital, APHP, Paris, France.;Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
[9]
Genetics Department, Robert Debré Hospital, APHP, Paris, France.
[10]
INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.;APHP, Department of Neurology, Hôpital de la Pitié-Salpêtrière, Paris, France.
[11]
Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.;CNRS UMR 5292, INSERM U1028, CNRL, and Université Claude Bernard Lyon 1, GHE, Lyon, France.
[12]
Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.
[13]
Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.;Centre de référence pour la maladie de Rendu-Osler, Bron, France.
[14]
GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR-Psy Team (CNRS & Lyon 1 Claude Bernard University), Lyon, France.
[15]
Département de Génétique Médicale, CHU de Hautepierre, Strasbourg, France.
[16]
INSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.;FHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.
[17]
INSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.;Centre de Génétique et Centre de Référence Maladies Rares «Anomalies du Développement de l'Interrégion Est», Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
[18]
CHU de Rennes, service de génétique clinique, Rennes, France.;Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France.
[19]
Univ Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S 1085, Rennes, France.
[20]
Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France.;Service de Génétique Moléculaire et Génomique, CHU, Rennes, France.
[21]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
[22]
Cook Childrens Medical Center, Fort Worth, TX, USA.
[23]
Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[24]
Rady Children's Hospital San Diego, Division of Genetics and Dysmorphology, San Diego, CA, USA.
[25]
Rady Children's Hospital San Diego, Division of Genetics and Dysmorphology, San Diego, CA, USA.;Department of Pediatrics, University of California-San Diego, San Diego, CA, USA.
[26]
Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.
[27]
Translational Genomics Research Institute (TGen), Center for Rare Childhood Disorders, Phoenix, AZ, USA.
[28]
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
[29]
West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
[30]
West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.;RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
[31]
North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, London, UK.
[32]
IWK Health Centre, Dalhousie University, Halifax, NS, Canada.
[33]
North West Thames Regional Genetics Service, Northwick Park Hospital, London, UK.;Cheshire & Merseyside Regional Genetics Service, Liverpool Women's Hospital, Liverpool, UK.
[34]
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
[35]
Gillette Children's Specialty Healthcare, St. Paul, MN, USA.;Children's Minnesota, Minneapolis, MN, USA.
[36]
Service de génétique clinique, Centre de Référence Maladies Rares «Anomalies du Développement et syndromes malformatifs du Sud-Est", CHU de Clermont-Ferrand, Clermont-Ferrand, France.
[37]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[38]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.
[39]
Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.
[40]
Northern Genetics Service-Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
[41]
Institute of Neuroscience, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.;Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
[42]
Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
[43]
Division of Metabolic Disorders, Children's Hospital of Orange County (CHOC), Orange, CA, USA.
[44]
Department of Human Genetics, Emory Universit, Atlanta, GA, USA.
[45]
Division of Pediatric Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada.
[46]
Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.
[47]
Child Development Program, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada.
[48]
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
[49]
Children's hospital of Los Angeles, Los Angeles, CA, USA.
[50]
Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.
[51]
CHU Nantes, Service de Génétique Médicale, Nantes, France.;INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes, France.
[52]
Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
[53]
Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.;IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.
[54]
Center for Individualized Medicine, Department of Health Science Research, and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.;Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
[55]
Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. lefebvrev1@email.chop.edu.
[56]
INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France. christel.depienne@uni-due.de.;Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany. christel.depienne@uni-due.de.;IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France. christel.depienne@uni-due.de.
[57]
医学主题词
青少年(Adolescent);成年人(Adult);动物(Animals);儿童(Child);儿童, 学龄前(Child, Preschool);DNA结合蛋白质类(DNA-Binding Proteins);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);单倍剂量不足(Haploinsufficiency);人类(Humans);婴儿(Infant);语言发展障碍(Language Development Disorders);男(雄)性(Male);突变, 误义(Mutation, Missense);系谱(Pedigree);表型(Phenotype);SOXD转录因子类(SOXD Transcription Factors);青年人(Young Adult)
DOI
10.1038/s41436-019-0657-0
PMID
31578471
发布时间
2022-07-16
- 浏览11
Genetics in medicine
Genetics in medicine
524-537页
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