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Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome
Garcia-Hafner-Happle syndrome, also known as Fibroblast growth factor receptor 3 epidermal nevus syndrome, is a new neurocutaneous phenotype, which has been identified in 2008 by Garcı’a-Vargas et al. The disorder is caused by a mosaic R248C mutation of the FGFR3 gene, which is characterized by a ke...
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| Hoofdauteurs: | , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Medknow Publications & Media Pvt Ltd
2014
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4040040/ https://ncbi.nlm.nih.gov/pubmed/24891911 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.131493 |
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