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Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
Boppudi, S; Bögershausen, N; Hove, H B; Percin, E F; Aslan, D; Dvorsky, R; Kayhan, G; Li, Y; Cursiefen, C; Tantcheva-Poor, I; Toft, P B; Bartsch, O; Lissewski, C; Wieland, I; Jakubiczka, S; Wollnik, B; Ahmadian, M R; Heindl, L M; Zenker, M.
Afiliação
  • Boppudi S; Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, Germany.
  • Bögershausen N; Institute of Human Genetics, University Medical Center Goettingen, Georg-August University, Goettingen, Germany.
  • Hove HB; Institute of Human Genetics, University of Cologne, Cologne, Germany.
  • Percin EF; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
  • Aslan D; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey.
  • Dvorsky R; Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.
  • Kayhan G; Institute of Biochemistry and Molecular Biology II, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Li Y; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey.
  • Cursiefen C; Institute of Human Genetics, University Medical Center Goettingen, Georg-August University, Goettingen, Germany.
  • Tantcheva-Poor I; Institute of Human Genetics, University of Cologne, Cologne, Germany.
  • Toft PB; Department of Ophthalmology, University of Cologne, Cologne, Germany.
  • Bartsch O; Department of Dermatology, University of Cologne, Cologne, Germany.
  • Lissewski C; Department of Ophthalmology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
  • Wieland I; Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany.
  • Jakubiczka S; Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, Germany.
  • Wollnik B; Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, Germany.
  • Ahmadian MR; Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, Germany.
  • Heindl LM; Institute of Human Genetics, University Medical Center Goettingen, Georg-August University, Goettingen, Germany.
  • Zenker M; Institute of Human Genetics, University of Cologne, Cologne, Germany.
Clin Genet ; 90(4): 334-42, 2016 10.
Article em En | MEDLINE | ID: mdl-26970110
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Proteínas Proto-Oncogênicas p21(ras) / Predisposição Genética para Doença / Síndromes Neurocutâneas / Cisto Dermoide / Oftalmopatias / Lipomatose Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Humans / Infant Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Proteínas Proto-Oncogênicas p21(ras) / Predisposição Genética para Doença / Síndromes Neurocutâneas / Cisto Dermoide / Oftalmopatias / Lipomatose Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Humans / Infant Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article