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Article

Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.

The Journal of dermatology - 1 Apr 2012

Alavi Afagh, Shahshahani Mostafa M, Klotzle Brandy, Fan Jian-Bing, Ronaghi Mostafa, Elahi Elahe

Abstract excerpt

Ichthyosis is a heterogeneous disorder characterized by abnormal skin scaling over the whole body. Autosomal recessive congenital ichthyosis (ARCI) comprises various forms, the most important of which are lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). Seven genes have been identified to be causative of ARCI, and these account for disease in 60-80% of the patients. There is notable...

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Child, Preschool
Genes, Recessive
Genetic Association Studies
Ichthyosiform Erythroderma, Congenital
Ichthyosis, Lamellar

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Cell Surface

Source

Identifiers

PMID: 22098531
DOI: 10.1111/j.1346-8138.2011.01412.x

Genes

NIPAL4

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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