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Article

Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.

The British journal of dermatology - 1 Jul 2010

Nagtzaam I F, van Geel M, Driessen A, Steijlen P M, van Steensel M A M

Abstract excerpt

Neonatal ichthyosis-sclerosing cholangitis (NISCh) syndrome is a rare autosomal recessive disorder associated with scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. It is caused by homozygous mutations in the CLDN1 gene coding for the tight junction component claudin-...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20645982
DOI: 10.1111/j.1365-2133.2010.09794.x

Genes

CLDN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20645982-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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