Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma

Abstract Background Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the association between all these peculiar features and neurofibromatosis type 1 have been described, it has not yet been clarified wh...

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Principais autores:	Silvia Vannelli, Raffaele Buganza, Federica Runfola, Ilaria Mussinatto, Antonio Andreacchio, Luisa de Sanctis
格式:	Artigo
語言:	Inglês
出版:	BMC 2020-05-01
叢編:	Italian Journal of Pediatrics
主題:	Neurofibromatosis type 1 Jaffe-Campanacci syndrome Non-ossifying fibromas Giant cell granulomas of the jaw café-au-lait macules
在線閱讀:	http://link.springer.com/article/10.1186/s13052-020-0813-9
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