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Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4
Waardenburg syndrome type 4 (WS4) is a rare neural crest disorder defined by the combination of Waardenburg syndrome (sensorineural hearing loss and pigmentation defects) and Hirschsprung disease (intestinal aganglionosis). Three genes are known to be involved in this syndrome, that is, EDN3 (endoth...
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| Hoofdauteurs: | , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group
2012
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3421117/ https://ncbi.nlm.nih.gov/pubmed/22378281 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.29 |
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