Founder variants in KRT5 and POGLUT1 are implicated in Dowling-Degos disease

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Veröffentlicht in:Journal of investigative dermatology 2024-01, Vol.144 (1), p.181-184
Hauptverfasser: Kumar, Sheetal, Borisov, Oleg, Maj, Carlo, Ralser, Damian J., Humbatova, Aytaj, Hanneken, Sandra, Schmieder, Astrid, Groß, Janina, Maintz, Laura, Heineke, Andre, Knuever, Jana, Fagerberg, Christina, Parmentier, Laurent, Anemüller, Waltraud, Oji, Vinzenz, Tantcheva-Poór, Iliana, Fölster-Holst, Regina, Wenzel, Joerg, Krawitz, Peter M., Frank, Jorge, Betz, Regina C.
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container_end_page 184
container_issue 1
container_start_page 181
container_title Journal of investigative dermatology
container_volume 144
creator Kumar, Sheetal
Borisov, Oleg
Maj, Carlo
Ralser, Damian J.
Humbatova, Aytaj
Hanneken, Sandra
Schmieder, Astrid
Groß, Janina
Maintz, Laura
Heineke, Andre
Knuever, Jana
Fagerberg, Christina
Parmentier, Laurent
Anemüller, Waltraud
Oji, Vinzenz
Tantcheva-Poór, Iliana
Fölster-Holst, Regina
Wenzel, Joerg
Krawitz, Peter M.
Frank, Jorge
Betz, Regina C.
description
doi_str_mv 10.1016/j.jid.2023.04.036
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source MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection
subjects Glucosyltransferases
Humans
Hyperpigmentation - genetics
Keratin-5 - genetics
Skin Diseases, Genetic - genetics
Skin Diseases, Papulosquamous - diagnosis
Skin Diseases, Papulosquamous - genetics
title Founder variants in KRT5 and POGLUT1 are implicated in Dowling-Degos disease
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