Mutation update for the SATB2 gene

Por: Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Thropp EK, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny T, Blok LS, Gavrilova R and Fish JL

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Publicada: 1 ago 2019 Ahead of Print: 18 jun 2019

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Filiaciones:
Zarate YA:
 Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA

Bosanko KA:
 Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA

Caffrey AR:
 Health Outcomes, College of Pharmacy, University of Rhode Island, Kingston, RI, USA

Bernstein JA:
 Stanford University School of Medicine, Stanford, CA, USA

Martin DM:
 Departments of Pediatrics and Human Genetics, The University of Michigan, Ann Arbor, MI, USA

Williams MS:
 Genomic Medicine Institute, Geisinger, Danville, PA, USA

Berry-Kravis EM:
 Departments of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, IL, USA

Mark PR:
 Spectrum Health Medical Genetics, Grand Rapids, MI, USA

Manning MA:
 Departments of Pathology and Pediatrics, Stanford University School of Medicine, Stanford, CA, USA

Bhambhani V:
 Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, MN, USA

Vargas M:
 Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, MN, USA

Seeley AH:
 Genomic Medicine Institute, Geisinger, Danville, PA, USA

Estrada-Veras JI:
 The Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc, Bethesda, MD, USA

 Uniformed Services University of the Health Sciences, Bethesda, MD, USA

 Walter Reed National Military Medical Center, Bethesda, MD, USA

van Dooren MF:
 Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Netherlands

Schwab M:
 Genetics Division, Joseph Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, NJ, USA

Vanderver A:
 Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA

 Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

Melis D:
 Department of Translational Medical Science, Section of Pediatrics, Federico II University, Naples, Italy

Alsadah A:
 Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA

Sadler L:
 Division of Genetics, Oishei Children's Hospital, Jacobs School of Medicine and Biomedical Sciences, University of Buffalo, Buffalo, NY, USA

Van Esch H:
 Center for Human Genetics, University Hospitals Leuven, KU Leuven, Belgium

Callewaert B:
 Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Oostra A:
 Department of Pediatric Neurology, Ghent University Hospital, Ghent, Belgium

Maclean J:
 Pediatric Neurology, Palo Alto medical foundation, San Jose, CA, USA

Dentici ML:
 Medical Genetics, Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy

Orlando V:
 Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

Lipson M:
 Department of Genetics, Kaiser Permanente, Sacramento, CA, USA

Sparagana SP:
 Department of Neurology, Texas Scottish Rite Hospital for Children, Dallas, TX, USA

Maarup TJ:
 Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA

Alsters SI:
 Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands

Brautbar A:
 Department of Genetics, Fort Worth, TX, USA

Thropp EK:
 PANDA Neurology, Atlanta, GA, USA

Naidu S:
 Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA

Lees M:
 Clinical Genetics Unit, Great Ormond Street Hospital for Children, London, UK

Smith DM:
 Minnesota Epilepsy Group, Saint Paul, MN, USA

Turner L:
 Faculty of Medicine, Memorial University, St. John's, Newfoundland, Canada

Raggio V:
 Departamento de Genética, Facultad de Medicina, Montevideo, Uruguay

Spangenberg L:
 Unidad de Bioinformática, Institut Pasteur, Montevideo, Uruguay

Garcia-Miñaúr S:
 Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain

Roeder ER:
 Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA

 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

Littlejohn RO:
 Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA

 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

Grange D:
 Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medcine, St Louis, MO, USA

Pfotenhauer J:
 Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA

Jones MC:
 Department of Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, CA, USA

Balasubramanian M:
 Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, UK

Martinez-Monseny T:
 Genetics and Molecular Medicine and Rare Disease Pediatric Unit, Hospital Sant Joan de Déu, Barcelona, Spain

Blok LS:
 Human Genetics Department, Radboud University Medical Center, Nijmegen, Netherlands

 Language Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, Netherlands

Gavrilova R:
 Departments of Neurology and Clinical Genomics, Mayo Clinic, Rochester MN, USA

Fish JL:
 Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts