Incontinentia pigmenti: report on data from 2000 to 2013

Orphanet Journal of Rare Diseases

Matilde Valeria Ursini³  Maria Brigida Lioi¹  Peppino Mirabelli³  Elio Esposito²  Alessandra Pescatore²  Matilde Immacolata Conte²  Mariateresa Paciolla¹  Francesca Fusco² 

[1] University of Basilicata, Potenza 85100, Italy;Institute of Genetics and Biophysics ‘Adriano Buzzati-Traverso’, IGB-CNR, Naples, Italy;Fondazione SDN IRCCS, Via E. Gianturco 113, 80143 Naples, Italy

关键词: Database;    Registry;    Molecular diagnosis;    Neuroectodermal disorder;    Genomic disorder;    Incontinentia pigmenti;   

Others  :  861490
DOI  :  10.1186/1750-1172-9-93

 received in 2014-03-06, accepted in 2014-06-12,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Fusco et al.; licensee BioMed Central Ltd.

【 图 表 】

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