Expanding the phenotype of TAB2 variants and literature review

Autor: Woods, E., Marson, I., Coci, E., Spiller, M., Kumar, A., Brady, A., Homfray, T., Fisher, R., Turnpenny, P., Rankin, J., Kanani, F., Platzer, K., Ververi, A., Emmanouilidou, E., Bourboun, N., Giannakoulas, G., Balasubramanian, M.

TAB2 is a gene located on chromosome 6q25.1 and plays a key role in development of the heart. Existing literature describes congenital heart disease as a common recognized phenotype of TAB2 gene variants, with evidence of a distinct syndromic phenoty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::8f90989e9c2c1c6be1260f5eb7eed8fb

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Expanding the phenotype of TAB2 variants and literature review.

Autor: Woods E; Department of Paediatrics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Marson I; Medical School, University of Sheffield, Sheffield, UK., Coci E; Department of Pediatrics, Prignitz Hospital, Brandenburg Medical School, Prignitz, Germany.; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Spiller M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Kumar A; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK., Brady A; Clinical Genetics Service, Northwick Park Hospital, London, UK., Homfray T; Clinical Genetics Service, St George's Hospital, London, UK., Fisher R; Northern Genetics Service, Newcastle University Hospital NHS Trust, Newcastle, UK., Turnpenny P; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Trust, Exeter, UK., Rankin J; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Trust, Exeter, UK., Kanani F; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Ververi A; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK., Emmanouilidou E; Department of Paediatrics, General Hospital of Kavala, Kavala, Greece., Bourboun N; Cardiology Department, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece., Giannakoulas G; Cardiology Department, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Nov; Vol. 188 (11), pp. 3331-3342. Date of Electronic Publication: 2022 Aug 16.