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Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.
Ralser, D J; Kumar, S; Borisov, O; Sarig, O; Richard, G; Wolf, S; Krawitz, P M; Sprecher, E; Kreiß, M; Betz, R C.
Afiliación
  • Ralser DJ; Institute of Human Genetics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
  • Kumar S; Institute of Human Genetics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
  • Borisov O; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
  • Sarig O; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Richard G; GeneDx, Gaithersburg, MD, USA.
  • Wolf S; Institute of Human Genetics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
  • Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
  • Sprecher E; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Kreiß M; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Betz RC; Institute of Human Genetics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
Br J Dermatol ; 183(4): 756-757, 2020 10.
Article en En | MEDLINE | ID: mdl-32282935

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Queratodermia Palmoplantar / Hipohidrosis Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Br J Dermatol Año: 2020 Tipo del documento: Article País de afiliación: Alemania

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Queratodermia Palmoplantar / Hipohidrosis Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Br J Dermatol Año: 2020 Tipo del documento: Article País de afiliación: Alemania