Open AccessFirst IKBKG gene mutation study in Serbian incontinentia pigmenti patients
Author(s) -
Snežana Minić,
Dušan Trpinac,
Heinz Gabriel,
Martin Genčík,
Miljana Obradović
Publication year - 2013
Publication title -
srpski arhiv za celokupno lekarstvo
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.135
H-Index - 17
eISSN - 2406-0895
pISSN - 0370-8179
DOI - 10.2298/sarh1308490m
Subject(s) - incontinentia pigmenti , proband , exon , genodermatosis , medicine , mutation , genetics , genetic counseling , gene , biology , dermatology
Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. Mutations of the IKBKG gene are the only known cause of IP. The presence or other than skin changes is important in the diagnosis of atypical IP cases when skin changes are discrete.
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