A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy
We describe a new mutation in exon 4 of IKBKG, encoding nuclear factor‐kappa B in a patient with incontinentia pigmenti. The patient had a severe cholestatic liver disease with features of a ciliopathy and underwent liver transplantation. We cannot establish a link between incontinentia pigmenti, a very rare disease, and hepatic ciliopathy, but we suggest that hepatic evaluation should be considered in patients with incontinentia pigmenti.
Source: Australasian Journal of Dermatology - Category: Dermatology Authors: Sorina Danescu, Cristina Has, Corina Baican, Thomas M üller, Adrian Baican Tags: Brief Reports Source Type: research
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