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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....
Uloženo v:
| Vydáno v: | BMC Pediatr |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2021
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| Témata: | |
| On-line přístup: | 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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