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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| 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 |