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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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Détails bibliographiques
Publié dans:BMC Pediatr
Auteurs principaux: Pinti, Eva, Nemeth, Krisztina, Staub, Krisztina, Lengyel, Anna, Fekete, Gyorgy, Haltrich, Iren
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2021
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Accès en ligne: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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