Article
De novo NEMO gene deletion (delta4-10)--a cause of incontinentia pigmenti in a female infant: a case report.
Collegium antropologicum - 1 Dec 2008
Culić Vida, Gabrić Dragana, Puizina-Ivić Neira, Rozman Katja, Peterlin Borut, Pavelić Jasminka
Abstract excerpt
Incontinentia pigmenti (IP) is a rare, inherited, multisystem genodermatosis. It is transmitted as an X-linked dominant trait. The disorder is a consequence of mutations in the NEMO gene (Xq28) that completely abolish expression of the NF-kappaB essential modulator. Here we present a female infan...
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