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Incontinentia Pigmenti in a Newborn with NEMO Mutation
Journal of Korean Medical Science ; : 308-311, 2011.
Article Dans Anglais | WPRIM | ID: wpr-123272
ABSTRACT
Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-kappaB 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 encephalomalacia as well as brain atrophy. Skin biopsy found it was consistent with the vesicular stage of IP. Genetic analysis revealed a deletion exon 4-10 in NEMO gene associated with IP. We hereby report a Korean female baby with IP confirmed by mutation analysis of NEMO gene.
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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Peau / Incontinentia pigmenti / Encéphale / Analyse de mutations d'ADN / Asiatiques / I-kappa B Kinase / Mutation Limites du sujet: Femelle / Humains / Nouveau-né langue: Anglais Texte intégral: Journal of Korean Medical Science Année: 2011 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Peau / Incontinentia pigmenti / Encéphale / Analyse de mutations d'ADN / Asiatiques / I-kappa B Kinase / Mutation Limites du sujet: Femelle / Humains / Nouveau-né langue: Anglais Texte intégral: Journal of Korean Medical Science Année: 2011 Type: Article