Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero­zygosity in Affected Skin

• Autors principals: Sabine Jägle (Autor), Hazem A. Juratli (Autor), Geoffroy Hickman (Autor), Kira Süssmuth (Autor), Maria C. Boente (Autor), Julia Kopp (Autor), Peter Kirchmeier (Autor), Andreas Zimmer (Autor), Rudolf Happle (Autor), Emmanuelle Bourrat (Autor), Henning Hamm (Autor), Judith Fischer (Autor)
• Format: Llibre
• Publicat: Medical Journals Sweden, 2021-02-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mutation present in affected skin have been shown to...