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Article

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

Oncotarget - 13 Jun 2017

Banerjee Santasree, Lei Dongzhu, Liang Shengran, Yang Li, Liu Saijun, Wei Zhu, Tang Jian Ping

Abstract excerpt

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. In our study, we present a clinical molecular study of four Chinese probands with NF1 from four unrelated...

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Identifiers

PMID: 27980226
DOI: 10.18632/oncotarget.13932
PMCID: PMC5503644

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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