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Article

Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.

BMC pediatrics - 29 Jul 2021

Pinti Eva, Nemeth Krisztina, Staub Krisztina, Lengyel Anna, Fekete Gyorgy, Haltrich Iren

Abstract excerpt

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. These are collectively termed NF1-like syndromes and are also connected by their genetic background. Therefore, the...

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PMID: 34325699
DOI: 10.1186/s12887-021-02791-0
PMCID: PMC8320045

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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