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Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders
In the rapidly growing group of rare genetic disorders, data scarcity demands an intelligible use of available data, in order to improve understanding of underlying pathophysiology. We hypothesize, based on the principle that clinical similarities may be indicative of shared pathophysiology, that de...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383723/ https://www.ncbi.nlm.nih.gov/pubmed/31804708 http://dx.doi.org/10.1002/jimd.12201 |