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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| 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 |