CYLD-related cutaneous syndrome: variable p.Pro482fs*6 phenotype in five individuals from two unrelated families.

Autor: Carton de Tournai D; Department of Dermatology, Ambroise Paré University Hospital, Mons, Belgium.; Department of Dermatology, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium., Vandernoot I; Department of Dermatology, Ambroise Paré University Hospital, Mons, Belgium.; Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium., Marangoni M; Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium., Faverly D; Center of Morphological Pathology, Brussels, Belgium., Diaz M; Department of Oncology, Ambroise Paré University Hospital, Mons, Belgium., Casagranda A; Department of Dermatology, Ambroise Paré University Hospital, Mons, Belgium., Berlingin E; Department of Dermatology, Ambroise Paré University Hospital, Mons, Belgium., Van Maldergem L; Clinical Investigation Center 1431, National Institute of Health and Medical Research (INSERM), Paris, France.; Center of Human Genetics, University of Franche-Comté, Besançon, France.
Jazyk: angličtina
Zdroj: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2021 Jan; Vol. 35 (1), pp. e81-e83. Date of Electronic Publication: 2020 Aug 11.
DOI: 10.1111/jdv.16823
Databáze: MEDLINE