A novel frameshift mutation of the IKBKG gene causing typical incontinentia pigmenti

A novel frameshift mutation of the IKBKG gene causing typical incontinentia pigmenti

Introduction. Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. Mutations of the IKBKG gene are responsible for IP. A deletion of exons 4-10 can be found in 80% of patients with IP. There are 69 different mutations of the IKBKG gene that have been reported. Case Outlin...

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Bibliographic Details
Main Authors: Minić Snežana, Trpinac Dušan, Obradović Miljana
Format: Article
Language:English
Published: Serbian Medical Society 2015-01-01
Series:Srpski Arhiv za Celokupno Lekarstvo
Subjects:
incontinentia pigmenti
IKBKG gene
frameshift mutation
genodermatosis
diagnosis
Online Access:http://www.doiserbia.nb.rs/img/doi/0370-8179/2015/0370-81791512752M.pdf

Internet

http://www.doiserbia.nb.rs/img/doi/0370-8179/2015/0370-81791512752M.pdf

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