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Article

Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Apr 2023

Frommherz Leonie, Komlosi Katalin, Hewel Charlotte, Kopp Julia, Dewenter Malin, Zimmer Andreas, Bartsch Oliver, Linke Matthias, Technau-Hafsi Kristin, Gerber Susanne, Fischer Judith, Has Cristina

Abstract excerpt

BACKGROUND: Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis. OBJECTIVES: We report on the genetic basis of acral ichthyosis in two families presenting with a similar phenotype. METHODS: Genetic testing was performed by targeted next generation sequencing and...

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PMID: 36331357
DOI: 10.1111/jdv.18719

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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