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Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase activating protein...

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Detalles Bibliográficos
Autores principales:	Banerjee, Santasree, Lei, Dongzhu, Liang, Shengran, Yang, Li, Liu, Saijun, Wei, Zhu, Tang, Jian Ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Impact Journals LLC 2016
Materias:	Clinical Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503644/ https://www.ncbi.nlm.nih.gov/pubmed/27980226 http://dx.doi.org/10.18632/oncotarget.13932

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