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A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.
Ou, Sokounthie; Cesarato, Nicole; Mauran, Pierre; Gellé, Marie-Paule; Thiele, Holger; Betz, Regina C; Viguier, Manuelle; Gusdorf, Laurence.
  • Ou S; Services of Dermatology and Venereology, Centre Hospitalier Universitaire (CHU) de Reims, Reims, France.
  • Cesarato N; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
  • Mauran P; Services of Pediatric and Congenital Cardiology, Centre Hospitalier Universitaire (CHU) de Reims, Reims, France.
  • Gellé MP; Services of Pediatric Oncology, Centre Hospitalier Universitaire (CHU) de Reims, Reims, France.
  • Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
  • Viguier M; Services of Dermatology and Venereology, Centre Hospitalier Universitaire (CHU) de Reims, Reims, France.
  • Gusdorf L; Services of Dermatology and Venereology, Centre Hospitalier Universitaire (CHU) de Reims, Reims, France.
Clin Exp Dermatol ; 47(7): 1424-1426, 2022 Jul.
Article en En | MEDLINE | ID: mdl-35574671
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Queratodermia Palmoplantar / Enfermedades del Cabello / Anodoncia Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Queratodermia Palmoplantar / Enfermedades del Cabello / Anodoncia Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Año: 2022 Tipo del documento: Article