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
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DOI: 10.1007/s00439-021-02410-z
Abstract: Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple café-au-lait macules (CALM) which may either be present at birth or appear during the first year of life. Other NF1-associated features such as… read more here.
Keywords: neurofibromatosis type; nf1 young; diagnostic criteria; young children ... See more keywords