Incontinentia pigmenti: report on data from 2000 to 2013 (Articolo in rivista)

Type
Label
  • Incontinentia pigmenti: report on data from 2000 to 2013 (Articolo in rivista) (literal)
Anno
  • 2014-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1186/1750-1172-9-93 (literal)
Alternative label
  • Fusco, Francesca; Paciolla, Mariateresa; Conte, Matilde Immacolata; Pescatore, Alessandra; Esposito, Elio; Mirabelli, Peppino; Lioi, Maria Brigida; Ursini, Matilde Valeria (2014)
    Incontinentia pigmenti: report on data from 2000 to 2013
    in Orphanet journal of rare diseases
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Fusco, Francesca; Paciolla, Mariateresa; Conte, Matilde Immacolata; Pescatore, Alessandra; Esposito, Elio; Mirabelli, Peppino; Lioi, Maria Brigida; Ursini, Matilde Valeria (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 9 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 5 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Naples, Italy University of Basilicata, Potenza 85100, Italy Fondazione SDN IRCCS, Via E. Gianturco 113, 80143 Naples, Italy (literal)
Titolo
  • Incontinentia pigmenti: report on data from 2000 to 2013 (literal)
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. (literal)
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