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TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.

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Title: TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.
Authors: Kalanithy JC; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany jkalanithy@uni-bonn.de.; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany., Mingardo E; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Stegmann JD; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Dhakar R; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India., Dakal TC; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India., Rosenfeld JA; Baylor Genetics Laboratories, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Genomes2People Research Program, Division of Genetics, Department of Medicine, Mass General Brigham Inc, Boston, Massachusetts, USA., Woerner AC; Department of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Sebastian J; Department of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Levy PA; Department of Pediatrics, Children's Hospital at Montefiore, New York, New York, USA., Fleming LR; Genetics and Metabolic Clinic, St Luke's Health System, Boise, Idaho, USA., Waffenschmidt L; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany., Lindenberg TT; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany., Yilmaz Ö; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany., Channab K; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Babra BK; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany., Christ A; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Eiberger B; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Hölzel S; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany., Vidic C; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany., Häberlein F; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Pharmaceutical Biology, Molecular, Cellular, and Pharmacobiology Section, University of Bonn, Bonn, Germany., Ishorst N; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany., Rodriguez-Gatica JE; Clausius Institute of Physical and Theoretical Chemistry, University of Bonn, Bonn, Germany., Pezeshkpoor B; Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany.; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany., Kupczyk PA; Department of Diagnostic and Interventional Radiology, University Hospital Bonn, Bonn, Germany., Vanakker OM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Loddo S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Becker A; Institute for Cellular Neurosciences II, University Hospital Bonn, Bonn, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Molecular and Human Genetics; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Hilger AC; Research Center On Rare Kidney Diseases (RECORD), Erlangen University Hospital, Erlangen, Germany.; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany., Reutter HM; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.; Department of Pediatric and Adolescent Medicine, Division Neonatology and Pediatric Intensive Care, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany., Merz WM; Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany., Dworschak GC; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.; Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany., Odermatt B; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.
Source: Journal of medical genetics [J Med Genet] 2025 Jan 27; Vol. 62 (2), pp. 126-137. Date of Electronic Publication: 2025 Jan 27.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.
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Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Baylor Genetics Laboratories, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Tan+WH%22">Tan WH</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Coury+SA%22">Coury SA</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Genomes2People Research Program, Division of Genetics, Department of Medicine, Mass General Brigham Inc, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Woerner+AC%22">Woerner AC</searchLink>; Department of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Sebastian+J%22">Sebastian J</searchLink>; Department of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Levy+PA%22">Levy PA</searchLink>; Department of Pediatrics, Children's Hospital at Montefiore, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Fleming+LR%22">Fleming LR</searchLink>; Genetics and Metabolic Clinic, St Luke's Health System, Boise, Idaho, USA.<br /><searchLink fieldCode="AU" term="%22Waffenschmidt+L%22">Waffenschmidt L</searchLink>; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Lindenberg+TT%22">Lindenberg TT</searchLink>; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Yilmaz+Ö%22">Yilmaz Ö</searchLink>; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Channab+K%22">Channab K</searchLink>; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Babra+BK%22">Babra BK</searchLink>; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Christ+A%22">Christ A</searchLink>; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Eiberger+B%22">Eiberger B</searchLink>; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Hölzel+S%22">Hölzel S</searchLink>; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Vidic+C%22">Vidic C</searchLink>; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Häberlein+F%22">Häberlein F</searchLink>; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Pharmaceutical Biology, Molecular, Cellular, and Pharmacobiology Section, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Ishorst+N%22">Ishorst N</searchLink>; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Gatica+JE%22">Rodriguez-Gatica JE</searchLink>; Clausius Institute of Physical and Theoretical Chemistry, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Pezeshkpoor+B%22">Pezeshkpoor B</searchLink>; Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany.; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Kupczyk+PA%22">Kupczyk PA</searchLink>; Department of Diagnostic and Interventional Radiology, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Vanakker+OM%22">Vanakker OM</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Loddo+S%22">Loddo S</searchLink>; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Dentici+ML%22">Dentici ML</searchLink>; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Becker+A%22">Becker A</searchLink>; Institute for Cellular Neurosciences II, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Thiele+H%22">Thiele H</searchLink>; Cologne Center for Genomics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Posey+JE%22">Posey JE</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Lupski+JR%22">Lupski JR</searchLink>; Molecular and Human Genetics; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Hilger+AC%22">Hilger AC</searchLink>; Research Center On Rare Kidney Diseases (RECORD), Erlangen University Hospital, Erlangen, Germany.; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Reutter+HM%22">Reutter HM</searchLink>; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.; Department of Pediatric and Adolescent Medicine, Division Neonatology and Pediatric Intensive Care, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; 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