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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...
Uloženo v:
| Vydáno v: | Eur J Hum Genet |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer International Publishing
2019
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| 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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