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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Detalles Bibliográficos
Autores principales: Pinti, Eva, Nemeth, Krisztina, Staub, Krisztina, Lengyel, Anna, Fekete, Gyorgy, Haltrich, Iren
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320045/
https://www.ncbi.nlm.nih.gov/pubmed/34325699
http://dx.doi.org/10.1186/s12887-021-02791-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320045/
https://www.ncbi.nlm.nih.gov/pubmed/34325699
http://dx.doi.org/10.1186/s12887-021-02791-0

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