Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti

Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes and central nervous system.

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Bibliographische Detailangaben
Veröffentlicht in:Nature (London) 2000-05, Vol.405 (6785), p.466-472
Format: Artikel
Sprache:eng
Schlagworte:
Central nervous system
Genes
Genomics
Hair
Inactivation
Medical disorders
Mutation
Sexes
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Beschreibung
Zusammenfassung:Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes and central nervous system.
ISSN:0028-0836
1476-4687
DOI:10.1038/35013114