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Diagnostic difficulties and possibilities of NF1-like syndromes in childhood
BACKGROUND: Neurofibromatosis type 1 (NF1), which is caused by heterozygous inactivating pathogenic variants in the NF1, has poor phenotypic expressivity in the early years of life and there are numerous conditions, including many other tumor predisposition syndromes, that can mimic its appearance....
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| Publicat a: | BMC Pediatr |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8320045/ https://ncbi.nlm.nih.gov/pubmed/34325699 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-021-02791-0 |
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