Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype
Connective tissue disorders are a spectrum of diseases that affect the integrity of tissues including skin, vasculature, and joints. They are often caused by variants that disrupt genes encoding components of extracellular matrix (ECM). The fibulin glycoproteins are ECM proteins important for integr...
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| Hoofdauteurs: | , , , , , , , , |
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| Formaat: | Text |
| Taal: | Engels |
| Gepubliceerd in: |
Springer International Publishing
2019
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| Onderwerpen: | |
| Online toegang: | https://pmc.ncbi.nlm.nih.gov/articles/PMC7080811/ https://pubmed.ncbi.nlm.nih.gov/31792352 http://dx.doi.org/10.1038/s41431-019-0546-7 |
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