Your browser doesn't support javascript.
loading
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.
Gibb, Jack; Wall, Elizabeth; Fields, Ella; Seale, Anna; Armstrong, Catherine; Bamber, Andrew; Daubeney, Piers; Jacobs-Pearson, Makaela; Marton, Tamas; Stals, Karen; Low, Karen; Kaski, Juan Pablo; Spentzou, Georgia.
Afiliación
  • Gibb J; Department of Paediatric Cardiology, Bristol Royal Hospital for Children, Bristol, Bristol, UK jgibb90@gmail.com.
  • Wall E; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
  • Fields E; Centre for Paediatric Inherited and Rare Cardiovascular Disease, University College London, London, UK.
  • Seale A; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital for Children, London, UK.
  • Armstrong C; Department of Paediatric Cardiology, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
  • Bamber A; Department of Paediatric Cardiology, Bristol Royal Hospital for Children, Bristol, Bristol, UK.
  • Daubeney P; Department of Cellular Pathology, Southmead Hospital, Bristol, City of Bristol, UK.
  • Jacobs-Pearson M; Department of Paediatric Cardiology, Royal Brompton and Harefield Hospitals, London, UK.
  • Marton T; Guy's and St Thomas' Hospitals NHS Trust, London, UK.
  • Stals K; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
  • Low K; Department of Obstetrics and Gynecology, Semmelweis University Faculty of Medicine, Budapest, Hungary.
  • Kaski JP; Department of Cellular pathology, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
  • Spentzou G; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
J Med Genet ; 61(4): 405-409, 2024 Mar 21.
Article en En | MEDLINE | ID: mdl-38050058
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada / Defectos del Tabique Interventricular / Cardiomiopatías Límite: Humans Idioma: En Revista: J Med Genet Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada / Defectos del Tabique Interventricular / Cardiomiopatías Límite: Humans Idioma: En Revista: J Med Genet Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido