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Article

[Epidermal barrier - molecular structure and disorders in selected ichthyoses].

Postepy biochemii - 1 Jan 2000

Śniegórska Dominika, Kowalewski Cezary, Wertheim-Tysarowska Katarzyna

Abstract excerpt

Ichthyosis is a rare, clinically heterogeneous group of 36 skin diseases with Mendelian inheritance, characterized by disorders of cornification (MeDOC, Mendelian Disorders Of Cornification). Currently there are 35 genes known which mutations are a molecular cause of different MeDOC. They encode proteins involved in the processes of keratinocytes differentiation, lipid synthesis and metabolism and DNA repair....

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PMID: 28132443

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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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