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Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi, Hiva; Sethi, Mieran; Fawcett, Heather; Wing, Jonathan; Chandler, Natalie; Mohammed, Shehla; Craythorne, Emma; Morley, Ana M S; Lim, Rongxuan; Turner, Sally; Henshaw, Tanya; Garrood, Isabel; Giunti, Paola; Hedderly, Tammy; Abiona, Adesoji; Naik, Harsha; Harrop, Gemma; McGibbon, David; Jaspers, Nicolaas G J; Botta, Elena; Nardo, Tiziana; Stefanini, Miria; Young, Antony R; Sarkany, Robert P E; Lehmann, Alan R.
Afiliación
  • Fassihi H; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom; a.r.lehmann@sussex.ac.uk Hiva.Fassihi@gstt.nhs.uk.
  • Sethi M; King's College London, Kings Health Partners, Division of Genetics and Molecular Medicine, St John's Institute of Dermatology, Guy's Hospital, London SE1 9RT, United Kingdom;
  • Fawcett H; Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom;
  • Wing J; Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom;
  • Chandler N; Genetics Department, Guy's Hospital, London SE1 9RT, United Kingdom;
  • Mohammed S; Genetics Department, Guy's Hospital, London SE1 9RT, United Kingdom;
  • Craythorne E; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • Morley AM; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • Lim R; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • Turner S; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • Henshaw T; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • Garrood I; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • Giunti P; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom; Department of Molecular Neuroscience, University College London, Institute of Neurology, London WC1N 3BG, United Kingdom;
  • Hedderly T; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • Abiona A; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • Naik H; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • Harrop G; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • McGibbon D; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • Jaspers NG; Department of Genetics, Erasmus Medical Center, 3015 CN, Rotterdam, The Netherlands;
  • Botta E; Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, 27100 Pavia, Italy.
  • Nardo T; Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, 27100 Pavia, Italy.
  • Stefanini M; Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, 27100 Pavia, Italy.
  • Young AR; King's College London, Kings Health Partners, Division of Genetics and Molecular Medicine, St John's Institute of Dermatology, Guy's Hospital, London SE1 9RT, United Kingdom;
  • Sarkany RP; National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' Foundation Trust, London SE1 7EH, United Kingdom;
  • Lehmann AR; Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom; a.r.lehmann@sussex.ac.uk Hiva.Fassihi@gstt.nhs.uk.
Proc Natl Acad Sci U S A ; 113(9): E1236-45, 2016 Mar 01.
Article en En | MEDLINE | ID: mdl-26884178
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Xerodermia Pigmentosa Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Xerodermia Pigmentosa Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos