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Article

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Acta dermato-venereologica - 2 Nov 2016

Pigg Maritta Hellström, Bygum Anette, Gånemo Agneta, Virtanen Marie, Brandrup Flemming, Zimmer Andreas D, Hotz Alrun, Vahlquist Anders, Fischer Judith

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of...

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Source

Identifiers

PMID: 27025581
DOI: 10.2340/00015555-2418

Genes

ABCA12
ABHD5
ALOXE3
NIPAL4
PNPLA1
TGM1

Provenance

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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