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Article

Cole Disease Results from Mutations in ENPP1.

American journal of human genetics - 3 Oct 2013

Eytan Ori, Morice-Picard Fanny, Sarig Ofer, Ezzedine Khaled, Isakov Ofer, Li Qiaoli, Ishida-Yamamoto Akemi, Shomron Noam, Goldsmith Tomer, Fuchs-Telem Dana, Adir Noam, Uitto Jouni, Orlow Seth J, Taieb Alain, Sprecher Eli

Abstract excerpt

The coexistence of abnormal keratinization and aberrant pigmentation in a number of cornification disorders has long suggested a mechanistic link between these two processes. Here, we deciphered the genetic basis of Cole disease, a rare autosomal-dominant genodermatosis featuring punctate keratoderma, patchy hypopigmentation, and uncommonly, cutaneous calcifications. Using a combination of exome and direct...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24075184
DOI: 10.1016/j.ajhg.2013.08.007
PMCID: PMC3791268

Genes

ENPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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