Clinical characteristics and in silico analysis of congenital pseudarthrosis of the tibia combined with neurofibromatosis type 1 caused by a novel NF1 mutation

Congenital pseudarthrosis of the tibia (CPT) is a rare congenital bone malformation, which has a strong relationship with Neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant disease leading to multisystem disorders. Here, we presented the genotypic and phenotypic characteristics of one uniq...

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Detalles Bibliográficos
Autores principales: Xu, Jingfang, Zhang, Ying, Zhu, Kun, Li, Jiabin, Guan, Yuelin, He, Xinyu, Jin, Xuejing, Bai, Guannan, Hu, Lidan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553987/
https://www.ncbi.nlm.nih.gov/pubmed/36246612
http://dx.doi.org/10.3389/fgene.2022.991314

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