换一批Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
第一作者：
Kevin E,Glinton
第一单位：
Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, USA.
作者：
Kevin E,Glinton [1]
;
Anna C E,Hurst [2]
;
Kevin M,Bowling [3]
;
Ingrid,Cristian [4]
;
Devon,Haynes [4]
;
Dusit,Adstamongkonkul [5]
;
Oskar,Schnappauf [6]
;
David B,Beck [6]
;
Carole,Brewer [7]
;
Aditi Shah,Parikh [8]
;
Deepali N,Shinde [9]
;
Alan,Donaldson [10]
;
Ariel,Brautbar [11]
;
Saskia,Koene [12]
;
Arie,van Haeringen [12]
;
Amélie,Piton [13]
;
Yline,Capri [14]
;
Margherita,Furlan [15]
;
Elena,Gardella [16]
;
Rikke Steensbjerre,Møller [16]
;
Irma,van de Beek [17]
;
Linda,Zuurbier [17]
;
Phillis,Lakeman [17]
;
Allan,Bayat [18]
;
Julian,Martinez [19]
;
Rebecca,Signer [19]
;
Pernille M,Torring [20]
;
Morten Buch,Engelund [20]
;
Karen W,Gripp [21]
;
Louise,Amlie-Wolf [21]
;
Lindsay B,Henderson [22]
;
Alina T,Midro [23]
;
Eugeniusz,Tarasów [24]
;
Beata,Stasiewicz-Jarocka [23]
;
Diana,Moskal-Jasinska [25]
;
Paul,Vos [26]
;
Felix,Boschann [27]
;
Corinna,Stoltenburg [28]
;
Oliver,Puk [29]
;
Inger-Lise,Mero [30]
;
Kristine,Lossius [31]
;
Cyril,Mignot [32]
;
Boris,Keren [33]
;
Johanna C,Acosta Guio [34]
;
Ignacio,Briceño [35]
;
Alberto,Gomez [35]
;
Yaping,Yang [36]
;
Pawel,Stankiewicz [1]
作者单位：
Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, USA.
[1]
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
[2]
HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
[3]
Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, Florida, USA.
[4]
CoxHealth, CoxHealth Pediatric Specialties, Springfield, Missouri, USA.;University of Missouri School of Medicine, Springfield Clinical Campus, Springfield, Missouri, USA.
[5]
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
[6]
Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
[7]
Center for Human Genetics, University Hospitals Cleveland Medical Center and Case Western Reserve University, Cleveland, Ohio, USA.
[8]
Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
[9]
Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.
[10]
Medical Genetics Department, Cook Children's Hospital, Fort Worth, Texas, USA.
[11]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
[12]
Unité de Génétique Moléculaire Strasbourg University Hospital, 1 place de l'Hôpital, Strasbourg Cedex, France.
[13]
Service de Génétique Clinique, CHU Robert Debré, Paris Cedex, France.
[14]
Danish Epilepsy Centre, Dianalund, Denmark.
[15]
Danish Epilepsy Centre, Dianalund, Denmark.;University of Southern Denmark, Odense, Denmark.
[16]
Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam, the Netherlands.
[17]
Danish Epilepsy Centre, Dianalund, Denmark.;University of Southern Denmark, Odense, Denmark.;Department of Pediatrics, University Hospital of Hvidovre, Copenhagen, Denmark.
[18]
Departments of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine at UCLA, California, Los Angeles, USA.
[19]
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
[20]
Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.
[21]
GeneDx, Gaithersburg, Maryland, USA.
[22]
Department of Clinical Genetics, Medical University, Białystok, 15-089, Białystok, Poland.
[23]
Department of Radiology, Medical University, Bialystok, Poland.
[24]
Department of Clinical Phonoaudiology and Speech Therapy, Medical University, Białystok, Białystok, Poland.
[25]
Department of Pediatrics, Haga Teaching Hospital, Juliana Children's Hospital, The Hague, The Netherlands.
[26]
Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
[27]
Department of Neuropaediatrics, Charité - Berlin University of Medicine, Berlin, Germany.
[28]
Praxis für Humangenetik Tuebingen, Department of Genetic Diagnostics, Tuebingen, Germany.
[29]
Department of Medical Genetics, Oslo University Hospital, Norway.
[30]
Department of Pediatric and Adolescent Medicine, Akershus University Hospital, Norway.
[31]
APHP-Sorbonne Université, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
[32]
Department of Genetics, APHP, Pitié-Salpêtrière University Hospital, Paris, France.
[33]
Especialista en Genética Médica, Instituto de Ortopedia Infantil Roosevelt, Bogotá, Cundinamarca, Colombia.
[34]
Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, DC, Colombia.
[35]
Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, USA.;AiLife Diagnostics, Country Place Pkwy Suite 100, Pearland, Texas, USA.
[36]
主题词
畸形, 多发性(Abnormalities, Multiple);青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);染色质组装和分解(Chromatin Assembly and Disassembly);染色体缺失(Chromosome Deletion);发育障碍(Developmental Disabilities);癫痫(Epilepsy);面容(Facies);女(雌)性(Female);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);小头畸形(Microcephaly);中年人(Middle Aged);表型(Phenotype);转录因子(Transcription Factors);青年人(Young Adult)
DOI
10.1002/ajmg.a.62102
PMID
33522091
发布时间
2021-08-09
- 浏览2
American journal of medical genetics. Part A
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