Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype

Neurofibromatosis type 1 (NF1), an autosomal dominant and multisystem disorder, is generally considered to be caused by NF1 inactivation. However, there are also numerous studies showing that Neurofibromatosis type 1-like phenotype can be caused by the abnormalities in the other genes. Through targe...

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Detalles Bibliográficos
Autores principales: Bai, Zhuanli, Qu, Yiping, Shi, Lin, Li, Xinju, Yang, Zhen, Ji, Meiju, Hou, Peng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8333038/
https://www.ncbi.nlm.nih.gov/pubmed/34344877
http://dx.doi.org/10.1038/s41419-021-04056-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8333038/
https://www.ncbi.nlm.nih.gov/pubmed/34344877
http://dx.doi.org/10.1038/s41419-021-04056-1

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