Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

Abstract Background Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 CPT, is not well understood. Here we screened germline variants of 75 C...

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Bibliographic Details
Main Authors: Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong, Haibo Mei
Format: Article
Language:English
Published: BMC 2019-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Neurofibromatosis 1
Whole exome sequencing
Genomic variation
Genotype
Phenotype
Online Access:http://link.springer.com/article/10.1186/s13023-019-1196-0

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http://link.springer.com/article/10.1186/s13023-019-1196-0

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