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Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Loh, Abigail Y T; Spoljar, Sanja; Neo, Granville Y W; Escande-Beillard, Nathalie; Leushacke, Marc; Luijten, Monique N H; Venkatesh, Byrappa; Bonnard, Carine; van Steensel, Maurice A M; Hamm, Henning; Carmichael, Andrew; Rajan, Neil; Carney, Thomas J; Reversade, Bruno.
Afiliación
  • Loh AYT; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Spoljar S; Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Neo GYW; Department for Dermatovenereology, University Hospital Center "Sestre Milosrdnice", Zagreb, Croatia.
  • Escande-Beillard N; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Leushacke M; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Luijten MNH; Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Venkatesh B; Medical Genetics Department, School of Medicine, Koç University, Istanbul, Turkey.
  • Bonnard C; Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR), Singapore.
  • van Steensel MAM; Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Hamm H; Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Carmichael A; Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Rajan N; Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR), Singapore.
  • Carney TJ; Lee Kong Chian School of Medicine, Experimental Medicine Building, Yunnan Garden Campus, Nanyang Technological University, Singapore.
  • Reversade B; Department of Dermatology, Venereology and Allergology, University Hospital Wuerzburg, Wuerzburg, Germany.
Am J Med Genet A ; 188(6): 1752-1760, 2022 06.
Article en En | MEDLINE | ID: mdl-35212137
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Carcinoma de Células Escamosas / Queratodermia Palmoplantar Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Singapur Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Carcinoma de Células Escamosas / Queratodermia Palmoplantar Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Singapur Pais de publicación: Estados Unidos