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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Zawerton, Ash; Yao, Baojin; Yeager, J Paige; Pippucci, Tommaso; Haseeb, Abdul; Smith, Joshua D; Wischmann, Lisa; Kühl, Susanne J; Dean, John C S; Pilz, Daniela T; Holder, Susan E; McNeill, Alisdair; Graziano, Claudio; Lefebvre, Véronique.
Afiliação
  • Zawerton A; Department of Inflammation and Immunity, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA.
  • Yao B; Jilin Ginseng Academy, Changchun University of Chinese Medicine, Changchun 130117, China.
  • Yeager JP; Department of Surgery/Division of Orthopaedic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Pippucci T; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, 40138 Bologna, Italy.
  • Haseeb A; Department of Surgery/Division of Orthopaedic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Wischmann L; Institute of Biochemistry and Molecular Biology, Ulm University, 89018 Ulm, Germany.
  • Kühl SJ; Institute of Biochemistry and Molecular Biology, Ulm University, 89018 Ulm, Germany.
  • Dean JCS; Department of Medical Genetics, Aberdeen Royal Infirmary, Foresterhill, Aberdeen AB25 2ZA, Scotland, UK.
  • Pilz DT; West of Scotland Genetics Services, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK; and Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.
  • Holder SE; London North West Healthcare NHS Trust, Northwick Park Hospital, Harrow HA1 3UJ, UK.
  • McNeill A; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield Children's Hospital, Sheffield, South Yorkshire S11 9LE, UK.
  • Graziano C; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, 40138 Bologna, Italy. Electronic address: claudio.graziano@unibo.it.
  • Lefebvre V; Department of Surgery/Division of Orthopaedic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: lefebvrev1@email.chop.edu.
Am J Hum Genet ; 104(2): 246-259, 2019 02 07.
Article em En | MEDLINE | ID: mdl-30661772
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Mutação de Sentido Incorreto / Fatores de Transcrição SOXC / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Mutação de Sentido Incorreto / Fatores de Transcrição SOXC / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos