Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

• 主要な著者: Eva Pinti (著者), Krisztina Nemeth (著者), Krisztina Staub (著者), Anna Lengyel (著者), Gyorgy Fekete (著者), Iren Haltrich (著者)
• フォーマット: 図書
• 出版事項: BMC, 2021-07-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract 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 appe...