Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants - Kehrer-Sawatzki, Hildegard; Cooper, David N. (Human genetics, 2022)
Keywords: Adults; Age; Biomedical and Life Sciences; Biomedicine; Brain Neoplasms - diagnosis; Cafe-au-Lait Spots - diagnosis; Child; Child, Preschool; Children; Colorectal Neoplasms - diagnosis; Diagnosis; Diagnosis, Differential; Diagnostic equipment (Medical); Families & family life; Family medical history; Female; Gene Function; Genes; Genes, Neurofibromatosis 1; Genetic disorders; Genetic screening; Genetic Variation; Genetics; Health aspects; Human Genetics; Humans; Infant; Infant, Newborn; Learning disabilities; Male; Metabolic Diseases; Molecular Medicine; Mosaicism; Neoplastic Syndromes, Hereditary - diagnosis; Neurofibromatosis; Neurofibromatosis 1 - diagnosis; Neurofibromatosis 1 - genetics; Neurofibromatosis 1 - pathology; Neurofibromin 1; Neurological disorders; Review; Tumors