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The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide

Incontinentia pigmenti (IP; OMIM#308300) is a rare genetic disease resulting in neuroectodermal defects, which can lead to disability. At present, there is neither definitive cure available nor are there any sufficiently reliable insights to predict the severity of the disease. We launched the Incon...

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Bibliographische Detailangaben
Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Fusco, Francesca, Valente, Valeria, Fergola, Dario, Pescatore, Alessandra, Lioi, Maria Brigida, Ursini, Matilde Valeria
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer International Publishing 2019
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777495/
https://ncbi.nlm.nih.gov/pubmed/31231133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0451-0
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