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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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Detaylı Bibliyografya
Yayımlandı:BMC Pediatr
Asıl Yazarlar: Pinti, Eva, Nemeth, Krisztina, Staub, Krisztina, Lengyel, Anna, Fekete, Gyorgy, Haltrich, Iren
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2021
Konular:
Online Erişim: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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