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Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations.
Fewings, Eleanor; Ziemer, Mirjana; Hörtnagel, Konstanze; Reicherter, Kerstin; Larionov, Alexey; Redman, James; Goldgraben, Mae A; Pepler, Alexander; Hearn, Tim; Firth, Helen; Ha, Tom; Schaller, Jörg; Adams, David J; Rytina, Ed; van Steensel, Maurice; Tischkowitz, Marc.
Afiliación
  • Fewings E; Academic Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
  • Ziemer M; Department of Dermatology, Venerology and Allergology, University of Leipzig Medical Center, Leipzig, Germany.
  • Hörtnagel K; Center for Genomics and Transcriptomics and Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Reicherter K; Center for Genomics and Transcriptomics and Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Larionov A; Academic Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
  • Redman J; Academic Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
  • Goldgraben MA; Academic Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
  • Pepler A; Center for Genomics and Transcriptomics and Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Hearn T; Academic Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
  • Firth H; East Anglian Medical Genetics Service, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Ha T; Department of Dermatology, Addenbrooke's Hospital, Cambridge, United Kingdom.
  • Schaller J; Dermatopathologie Duisburg, Duisburg, Germany.
  • Adams DJ; Experimental Cancer Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom.
  • Rytina E; Department of Histopathology, Addenbrooke's Hospital, Cambridge, United Kingdom.
  • van Steensel M; Skin Research Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore; Lee Kong Chian Medical School, Nanyang Technological University, Singapore, Singapore.
  • Tischkowitz M; Academic Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom; East Anglian Medical Genetics Service, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom. Electronic address: mdt33@medschl.cam.a
J Invest Dermatol ; 139(10): 2238-2241.e6, 2019 10.
Article en En | MEDLINE | ID: mdl-31125547
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Glándulas Sudoríparas / Trombocitopenia / Trastornos de las Plaquetas Sanguíneas / Agregación Plaquetaria / Cadenas Pesadas de Miosina / Predisposición Genética a la Enfermedad / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: J Invest Dermatol Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Glándulas Sudoríparas / Trombocitopenia / Trastornos de las Plaquetas Sanguíneas / Agregación Plaquetaria / Cadenas Pesadas de Miosina / Predisposición Genética a la Enfermedad / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: J Invest Dermatol Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido