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Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Pagnamenta, Alistair T; Jackson, Adam; Perveen, Rahat; Beaman, Glenda; Petts, Gemma; Gupta, Asheeta; Hyder, Zerin; Chung, Brian Hon-Yin; Kan, Anita Sik-Yau; Cheung, Ka Wang; Kerstjens-Frederikse, Wilhelmina S; Abbott, Kristin M; Elpeleg, Orly; Taylor, Jenny C; Banka, Siddharth; Ta-Shma, Asaf.
Afiliación
  • Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Jackson A; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK.
  • Perveen R; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Beaman G; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK.
  • Petts G; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK.
  • Gupta A; Department of Paediatric Histopathology, Royal Manchester Children's Hospital, Manchester, UK.
  • Hyder Z; Birmingham Children's Hospital, Birmingham, UK.
  • Chung BH; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK.
  • Kan AS; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong.
  • Cheung KW; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Pok Fu Lam, Hong Kong.
  • Kerstjens-Frederikse WS; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Pok Fu Lam, Hong Kong.
  • Abbott KM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • Taylor JC; Department of Genetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Banka S; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Ta-Shma A; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK.
Clin Genet ; 101(1): 127-133, 2022 01.
Article en En | MEDLINE | ID: mdl-34612517
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tronco Arterial / Alelos / Cardiopatías Congénitas / Enfermedades Renales / Proteínas de la Membrana Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tronco Arterial / Alelos / Cardiopatías Congénitas / Enfermedades Renales / Proteínas de la Membrana Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido