First IKBKG gene mutation study in Serbian incontinentia pigmenti patients

First IKBKG gene mutation study in Serbian incontinentia pigmenti patients

Introduction. Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. Mutations of the IKBKG gene are the only known cause of IP. The presence of other than skin changes is important in the diagnosis of atypical IP cases when skin changes are discrete. Objective. The study was de...

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Bibliographic Details
Main Authors: Minić Snežana, Trpinac Dušan, Gabriel Heinz, Gencik Martin, Obradović Miljana
Format: Article
Language:English
Published: Serbian Medical Society 2013-01-01
Series:Srpski Arhiv za Celokupno Lekarstvo
Subjects:
Incontinentia pigmenti
IKBKG gene
IKBKG exon 4-10 deletion
X-chromosome
X-chromosome inactivation
phenotype
Online Access:http://www.doiserbia.nb.rs/img/doi/0370-8179/2013/0370-81791308490M.pdf

Internet

http://www.doiserbia.nb.rs/img/doi/0370-8179/2013/0370-81791308490M.pdf

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