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Article

Incontinentia pigmenti in a newborn with NEMO mutation.

Journal of Korean medical science - 1 Feb 2011

Lee Young, Kim Sooyeon, Kim Kyunghee, Chang Meayoung

Abstract excerpt

Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-κB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. The serial MRIs demonstrated diffuse, progressive brain infarctions and subsequent...

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Identifiers

PMID: 21286028
DOI: 10.3346/jkms.2011.26.2.308
PMCID: PMC3031021

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Incontinentia pigmenti in a newborn with NEMO mutation.PMID 21286028Read ↗

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

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

Incontinentia pigmenti (Bloch-Sulzberger syndrome).Semantic proximity Read ↗

De novo NEMO gene deletion (delta4-10)--a cause of incontinentia pigmenti in a female infant: a case report.Semantic proximity Read ↗

[From gene to disease; incontinentia pigmenti and the NEMO-gene].Semantic proximity Read ↗

[Proposal for a protocol for the staging of incontinentia pigmenti in pediatric age].Semantic proximity Read ↗

A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation.Semantic proximity Read ↗

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

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

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.Semantic proximity Read ↗

NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: a new disease association.Semantic proximity Read ↗

[Incontinentia pigmenti (Bloch-Sulzberger syndrome)].Semantic proximity Read ↗

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