Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1

Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1

Abstract Background Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by a heterozygous germline mutation in the tumor suppressor gene NF1. Because of the existence of highly homologous pseudogenes, the large size of the gene, and the heterogeneity of mutation types and p...

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Bibliographic Details
Main Authors: Bin Mao, Siyu Chen, Xin Chen, Xiumei Yu, Xiaojia Zhai, Tao Yang, Lulu Li, Zheng Wang, Xiuli Zhao, Xue Zhang
Format: Article
Language:English
Published: BMC 2018-06-01
Series:BMC Medical Genetics
Subjects:
Neurofibromatosis type 1
The NF1 gene
Clinical manifestations
Chinese
Online Access:http://link.springer.com/article/10.1186/s12881-018-0615-8

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http://link.springer.com/article/10.1186/s12881-018-0615-8

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