Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

• Autores principales: Eva Pinti (Autor), Krisztina Nemeth (Autor), Krisztina Staub (Autor), Anna Lengyel (Autor), Gyorgy Fekete (Autor), Iren Haltrich (Autor)
• Formato: Libro
• Publicado: BMC, 2021-07-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...