Article
[Proposal for a protocol for the staging of incontinentia pigmenti in pediatric age].
Minerva pediatrica - 1 Jun 2007
Portaleone D, Taroni F, Micheli S, Moioli M, Pedrazzini A, Cognizzoli P, Carnelli V
Abstract excerpt
Incontinentia Pigmenti (IP) is an X-linked dominant disorder of skin with neurologic and ophthalmologic involvement. IP predominantly affects females because the mutations are usually lethal in males in utero. IP is characterized by abnormalities of neuroectodermal tissues. IP is caused by mutations in a gene called NEMO, which is required to activate the NF-kB pathway. We present a diagnostic protocol for IP and...
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