Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing

Neurofibromatosis (NF) is an autosomal genetic disorder for which early and definite clinical diagnoses are difficult. To identify the diagnosis, five affected probands with suspected NF from unrelated families were included in this study. Molecular analysis was performed using multigene panel testi...

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Detalles Bibliográficos
Autores principales: Zhang, Zeng-Yun-Ou, Wu, Yuan-Yuan, Cai, Xin-ying, Fang, Wen-Liang, Xiao, Feng-Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7985060/
https://www.ncbi.nlm.nih.gov/pubmed/33767727
http://dx.doi.org/10.3389/fgene.2021.603195

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7985060/
https://www.ncbi.nlm.nih.gov/pubmed/33767727
http://dx.doi.org/10.3389/fgene.2021.603195

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