Data di Pubblicazione:
2014
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.
Tipologia CRIS:
01.01 Articolo in rivista
Keywords:
Incontinentia pigmenti; Genomic disorder; Neuroectodermal disorder; Molecular diagnosis; Registry; Database
Elenco autori:
Fusco, Francesca; Pescatore, Alessandra; Ursini, Matilde
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