Article
[From gene to disease; incontinentia pigmenti and the NEMO-gene].
Nederlands tijdschrift voor geneeskunde - 23 Jul 2005
Oranje A P, Arts W F M, Wagner A, van der Hout A H, Simonsz H J
Abstract excerpt
Incontinentia pigmenti (IP; MIM308310) is a rare neurocutaneous X-dominant inherited disorder. Besides skin and neurological abnormalities, there is also ophthalmologic and dental involvement. The first stage is characterised by inflammation and apoptosis of the skin and central nervous system. The first stage consists of vesicles and the second of verrucous elements; the third stage is characterised by...
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