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TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype.
Cenni, Camille; Andres, Stephanie; Hempel, Maja; Strom, Tim M; Thomas, Ellen; Davies, Angela; Timoney, Norma; Frigiola, Alessandra; Logan, Malcolm; Holder-Espinasse, Muriel.
Affiliation
  • Cenni C; Department of Clinical Genetics, Guy's Hospital, London, UK.
  • Andres S; Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany.
  • Thomas E; Genomics England, Queen Mary University of London, London, UK; Genomic Medicine, Imperial College Healthcare NHS Trust, London, UK.
  • Davies A; Genetics Laboratories. Guy's Hospital, London, UK.
  • Timoney N; Department of Plastic Surgery, St Thomas Hospital, London, UK.
  • Frigiola A; Department of Cardiology, St Thomas Hospital, London, UK.
  • Logan M; Randall Centre for Cell and Molecular Biophysics, King's College London, Guy's Campus, London, UK.
  • Holder-Espinasse M; Department of Clinical Genetics, Guy's Hospital, London, UK. Electronic address: muriel.holder@gstt.nhs.uk.
Eur J Med Genet ; 64(7): 104213, 2021 Jul.
Article in En | MEDLINE | ID: mdl-33930582
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Ulna / Abnormalities, Multiple / Breast Diseases / T-Box Domain Proteins / Lower Extremity Deformities, Congenital / Upper Extremity Deformities, Congenital / Heart Defects, Congenital / Heart Septal Defects, Atrial Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Reino Unido Country of publication: Países Bajos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Ulna / Abnormalities, Multiple / Breast Diseases / T-Box Domain Proteins / Lower Extremity Deformities, Congenital / Upper Extremity Deformities, Congenital / Heart Defects, Congenital / Heart Septal Defects, Atrial Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Reino Unido Country of publication: Países Bajos