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Article

A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.

PloS one - 1 Jan 2013

Towers Rachel E, Murgiano Leonardo, Millar David S, Glen Elise, Topf Ana, Jagannathan Vidhya, Drögemüller Cord, Goodship Judith A, Clarke Angus J, Leeb Tosso

Abstract excerpt

Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin. Incontinentia pigmenti (IP) is an ED characterized by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities. Due...

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PMID: 24324710
DOI: 10.1371/journal.pone.0081625
PMCID: PMC3852476

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-24324710-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.PMID 24324710Read ↗

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Incontinentia Pigmenti: A Comprehensive Review and Update.Semantic proximity Read ↗

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Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.Semantic proximity Read ↗

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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.Semantic proximity Read ↗

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