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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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Dades bibliogràfiques
Publicat a:Oncotarget
Autors principals: Banerjee, Santasree, Lei, Dongzhu, Liang, Shengran, Yang, Li, Liu, Saijun, Wei, Zhu, Tang, Jian Ping
Format: Artigo
Idioma:Inglês
Publicat: Impact Journals LLC 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5503644/
https://ncbi.nlm.nih.gov/pubmed/27980226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.13932
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