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Article

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

Journal of medical genetics - 1 Oct 2007

Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg M Hellström, Gedde-Dahl T, Gånemo A, Vahlquist A, Dahl N

Abstract excerpt

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of skin disorders. Several mutant genes have been identified in ARCI, but the association between genotype and phenotype is poorly understood. METHODS: To investigate genotype-phenotype correlations in ARCI, we selected 27 patients from 18 families with specific ultrastructural features of the epidermis. The characteristic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 17557927
DOI: 10.1136/jmg.2007.050542
PMCID: PMC2597970

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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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