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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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Podrobná bibliografie
Vydáno v:Eur J Hum Genet
Hlavní autoři: Fusco, Francesca, Valente, Valeria, Fergola, Dario, Pescatore, Alessandra, Lioi, Maria Brigida, Ursini, Matilde Valeria
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2019
Témata:
On-line přístup: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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