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Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.
Jägle, Sabine; Hsu, Hao-Hsiang; Juratli, Hazem A; Zimmer, Andreas D; Prieschl, Amelie; Alter, Svenja; Wiedenhofer, Bernhard; Metze, Dieter; Emmert, Steffen; Fischer, Judith.
Afiliação
  • Jägle S; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Hsu HH; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Juratli HA; Department of Dermatology and Allergology, Philipps-University Marburg, Marburg, Germany.
  • Zimmer AD; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Prieschl A; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Alter S; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Wiedenhofer B; Dermatology private practice, Dr. med. Wiedenhofer, Treia, Germany.
  • Metze D; Department of Dermatology, University Hospital Münster, Münster, Germany.
  • Emmert S; Clinic for Dermatology and Venereology, Rostock University Medical Center, Rostock, Germany.
  • Fischer J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Br J Dermatol ; 188(1): 94-99, 2023 01 23.
Article em En | MEDLINE | ID: mdl-36689507
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ceratose Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ceratose Idioma: En Ano de publicação: 2023 Tipo de documento: Article