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Article

A case of incontinentia pigmenti in Japan and its genetic examination.

Japanese journal of ophthalmology - 1 Jan 2000

Huang Jane, Kondo Hiroyuki, Uchio Eiichi

Abstract excerpt

PURPOSE: Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis with approximately one-third of cases with associated ocular complications. Deletion of exons 4 to 10 of the nuclear factor kappaB essential modulator (NEMO) gene accounts for the majority of new mutations. The disease is more commonly found among Caucasians. We studied a case of an IP patient in Japan, and the genomic rearrangements....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17401626
DOI: 10.1007/s10384-006-0412-3

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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A case of incontinentia pigmenti in Japan and its genetic examination.PMID 17401626Read ↗

The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti.Semantic proximity Read ↗

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A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.Semantic proximity Read ↗

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Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP MalesSemantic proximity Read ↗

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