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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Alharatani, Reham; Ververi, Athina; Beleza-Meireles, Ana; Ji, Weizhen; Mis, Emily; Patterson, Quinten T; Griffin, John N; Bhujel, Nabina; Chang, Caitlin A; Dixit, Abhijit; Konstantino, Monica; Healy, Christopher; Hannan, Sumayyah; Neo, Natsuko; Cash, Alex; Li, Dong; Bhoj, Elizabeth; Zackai, Elaine H; Cleaver, Ruth; Baralle, Diana; McEntagart, Meriel; Newbury-Ecob, Ruth; Scott, Richard; Hurst, Jane A; Au, Ping Yee Billie; Hosey, Marie Therese; Khokha, Mustafa; Marciano, Denise K; Lakhani, Saquib A; Liu, Karen J.
Afiliación
  • Alharatani R; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.
  • Ververi A; Paediatric Dentistry, Centre of Oral, Clinical and Translational Science, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE5 9RS, UK.
  • Beleza-Meireles A; Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK.
  • Ji W; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.
  • Mis E; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK.
  • Patterson QT; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA.
  • Griffin JN; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA.
  • Bhujel N; Departments of Internal Medicine and Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390-8856, USA.
  • Chang CA; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.
  • Dixit A; Pediatric Genomics Discovery Program, Departments of Genetics and Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA.
  • Konstantino M; South Thames Cleft Service, Guy's and St. Thomas' NHS Foundation Trust, London SE1 7EH, UK.
  • Healy C; Department of Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, AB, Canada.
  • Hannan S; Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK.
  • Neo N; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA.
  • Cash A; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.
  • Li D; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.
  • Bhoj E; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.
  • Zackai EH; Tokyo Medical and Dental University, Tokyo, Japan.
  • Cleaver R; South Thames Cleft Service, Guy's and St. Thomas' NHS Foundation Trust, London SE1 7EH, UK.
  • Baralle D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • McEntagart M; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Newbury-Ecob R; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Scott R; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Hurst JA; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.
  • Au PYB; Department of Clinical Genetics, St George's Hospital, London SW17 0RE, UK.
  • Hosey MT; Clinical Genetics, University Hospital Bristol NHS Foundation Trust, Bristol BS2 8EG, UK.
  • Khokha M; Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK.
  • Marciano DK; Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK.
  • Lakhani SA; Department of Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, AB, Canada.
  • Liu KJ; Paediatric Dentistry, Centre of Oral, Clinical and Translational Science, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE5 9RS, UK.
Hum Mol Genet ; 29(11): 1900-1921, 2020 07 21.
Article en En | MEDLINE | ID: mdl-32196547
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Dentarias / Labio Leporino / Fisura del Paladar / Anomalías Craneofaciales / Ectropión / Cateninas / Cardiopatías Congénitas Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Dentarias / Labio Leporino / Fisura del Paladar / Anomalías Craneofaciales / Ectropión / Cateninas / Cardiopatías Congénitas Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido