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Incontinentia pigmenti: report on data from 2000 to 2013.
Fusco F, Paciolla M, Conte MI, Pescatore A, Esposito E, Mirabelli P, Lioi MB, Ursini MV. Fusco F, et al. Among authors: ursini mv. Orphanet J Rare Dis. 2014 Jun 24;9:93. doi: 10.1186/1750-1172-9-93. Orphanet J Rare Dis. 2014. PMID: 24961275 Free PMC article.
Clinical Utility Gene Card for: incontinentia pigmenti.
Fusco F, Pescatore A, Steffann J, Royer G, Bonnefont JP, Ursini MV. Fusco F, et al. Among authors: ursini mv. Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.227. Epub 2012 Oct 10. Eur J Hum Genet. 2013. PMID: 23047738 Free PMC article. No abstract available.
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV. Conte MI, et al. Among authors: ursini mv. Hum Mutat. 2014 Feb;35(2):165-77. doi: 10.1002/humu.22483. Epub 2013 Dec 12. Hum Mutat. 2014. PMID: 24339369
88 results