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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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Detalhes bibliográficos
Main Authors: Desai, Soaham Dilip, Vora, Rita, Bharani, Sheela
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2014
Assuntos:
Acesso em linha: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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