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. 2014 Jun 24:9:93.
doi: 10.1186/1750-1172-9-93.

Incontinentia pigmenti: report on data from 2000 to 2013

Francesca Fusco  1 , Mariateresa Paciolla, Matilde Immacolata Conte, Alessandra Pescatore, Elio Esposito, Peppino Mirabelli, Maria Brigida Lioi, Matilde Valeria Ursini
Affiliations

Incontinentia pigmenti: report on data from 2000 to 2013

Francesca Fusco et al. Orphanet J Rare Dis. .

Abstract

We report here on the building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity (2000-2013) at our centre of expertise. The database has been constructed on the basis of a continuous collection of patients (27.6/year), the majority diagnosed as sporadic cases (75.6%). This activity has generated a rich source of information for future research studies by integrating molecular/clinical data with scientific knowledge. We describe the content, architecture and future utility of this collection of data on IP to offer comprehensive anonymous information to the international scientific community.

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Figures

Figure 1
Figure 1
Annual distribution of the IP samples that have been received by the IGB centre for molecular diagnosis.
See this image and copyright information in PMC

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