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Article

Harlequin ichthyosis. Variability in expression and hypothesis for disease mechanism.

Archives of dermatology - 1 Nov 1993

Dale B A, Kam E

Abstract excerpt

BACKGROUND: Harlequin ichthyosis is an inherited skin disorder that usually results in death shortly after birth. Although the clinical features of this disorder are well described, the underlying molecular basis is not understood. In this article, we discuss the results of the latest histologic, immunochemical, and Western immunoblotting studies done in our laboratory and propose a hypothesis for molecular basis...

Topics

Cells, Cultured
Humans
Ichthyosis
Ichthyosis, Lamellar
Infant, Newborn
Keratinocytes
Keratins
Keratosis
Molecular Biology
Mutation
Phosphoprotein Phosphatases
Skin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7694551
DOI: 10.1001/archderm.129.11.1471

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7694551-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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