क्यूआर कोड

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

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...

पूर्ण विवरण

में बचाया:
मुख्य लेखकों: Sabine Jägle, Hazem A. Juratli, Geoffroy Hickman, Kira Süssmuth, Maria C. Boente, Julia Kopp, Peter Kirchmeier, Andreas Zimmer, Rudolf Happle, Emmanuelle Bourrat, Henning Hamm, Judith Fischer
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Medical Journals Sweden 2021-02-01
श्रृंखला:Acta Dermato-Venereologica
विषय:
mevalonate diphosphate decarboxylase gene
porokeratosis plantaris
palmaris et disseminata
linear porokeratosis
mosaicism
second hit
loss of heterozygosity
ऑनलाइन पहुंच: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3753
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