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Article

Inherited ichthyoses/generalized Mendelian disorders of cornification.

European journal of human genetics : EJHG - 1 Feb 2013

Schmuth Matthias, Martinz Verena, Janecke Andreas R, Fauth Christine, Schossig Anna, Zschocke Johannes, Gruber Robert

Abstract excerpt

Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Diagnosing a specific entity is a...

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Identifiers

PMID: 22739337
DOI: 10.1038/ejhg.2012.121
PMCID: PMC3548255

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Source receipt: pubmed, retrieved 7 Sept 2026.

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