{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,5,30]],"date-time":"2023-05-30T04:09:55Z","timestamp":1685419795300},"reference-count":0,"publisher":"National Library of Serbia","issue":"7-8","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Srp Arh Celok Lek","SRP ARH CELOK LEK","SRP ARK CELOK LEK","SRPSKI ARHIV CELOKUP"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>Introduction. Incontinentia pigmenti (IP) is a rare X-linked dominant\n   genodermatosis. Mutations of the IKBKG gene are the only known cause of IP.\n   The presence of other than skin changes is important in the diagnosis of\n   atypical IP cases when skin changes are discrete. Objective. The study was\n   designed to analyze clinical manifestation, family histories and the\n   frequency of IKBKG gene mutation in IP patients in Serbia for the first time\n   and to compare them with other reported findings. Methods. Two Serbian\n   unrelated families with eight female subjects were investigated. Blood\n   samples were used for IKBKG exon 4-10 deletion testing using modified PCR\n   protocol. For probands pathohistological and ultrastructural analyses of skin\n   biopsies were done. Results. Positive clinical diagnosis according to IP\n   criteria was present in seven cases. In six of them, including probands,\n   positive molecular gene testing for IKBKG exon 4-10 deletion was present.\n   Conclusion. This is the first report of genetically confirmed IP in two\n   Serbian families. The IP patients presented a common IKBKG exon 4-10\n   deletion. The frequency and type of IKBKG mutation found in investigated IP\n   patients in Serbia were similar to results of other studies. Various clinical\n   features of investigated patients have allowed us to demonstrate that\n   molecular genetic testing which specifically detects the common IKBKG\n   mutations, the only known cause of IP, is useful in diagnosing IP especially\n   in mild or atypical cases. The molecular genetic testing of the IKBKG\n   mutations may be helpful for rapid confirmation of IP diagnosis, prenatal\n   diagnosis and carrier detection.<\/jats:p>","DOI":"10.2298\/sarh1308490m","type":"journal-article","created":{"date-parts":[[2013,11,6]],"date-time":"2013-11-06T09:34:07Z","timestamp":1383730447000},"page":"490-494","source":"Crossref","is-referenced-by-count":1,"title":["First IKBKG gene mutation study in Serbian incontinentia pigmenti patients"],"prefix":"10.2298","volume":"141","author":[{"given":"Snezana","family":"Minic","sequence":"first","affiliation":[{"name":"Klini\u010dki centar Srbije, Klinika za dermatovenerologiju, Beograd + Medicinski fakultet, Beograd"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dusan","family":"Trpinac","sequence":"additional","affiliation":[{"name":"Institut za histologiju i embriologiju \u201eProf. dr Aleksandar \u0110. Kosti\u0107\u201c, Medicinski fakultet, Beograd"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heinz","family":"Gabriel","sequence":"additional","affiliation":[{"name":"Diagenos, Center for Medical Genetics, Osnabrueck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Gencik","sequence":"additional","affiliation":[{"name":"Diagenos, Center for Medical Genetics, Osnabrueck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miljana","family":"Obradovic","sequence":"additional","affiliation":[{"name":"Institut za histologiju i embriologiju \u201eProf. dr Aleksandar \u0110. Kosti\u0107\u201c, Medicinski fakultet, Beograd"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1078","container-title":["Srpski arhiv za celokupno lekarstvo"],"original-title":[],"language":"en","deposited":{"date-parts":[[2023,5,29]],"date-time":"2023-05-29T10:33:31Z","timestamp":1685356411000},"score":1,"resource":{"primary":{"URL":"https:\/\/doiserbia.nb.rs\/Article.aspx?ID=0370-81791308490M"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":0,"journal-issue":{"issue":"7-8","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.2298\/sarh1308490m","relation":{},"ISSN":["0370-8179","2406-0895"],"issn-type":[{"value":"0370-8179","type":"print"},{"value":"2406-0895","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}