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

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 CPT cases...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhu, Guanghui, Zheng, Yu, Liu, Yaoxi, Yan, An, Hu, Zhengmao, Yang, Yongjia, Xiang, Shiting, Li, Liping, Chen, Weijian, Peng, Yu, Zhong, Nanbert, Mei, Haibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751843/
https://www.ncbi.nlm.nih.gov/pubmed/31533797
http://dx.doi.org/10.1186/s13023-019-1196-0

Ejemplares similares

Ejemplares similares