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Genetics and Metabolism

Neurofibromatosis type I: points to be considered by general pediatricians

Eungu Kang, Hee Mang Yoon, Beom Hee Lee

Clin Exp Pediatr. 2021;64(4):149-156. Published online July 15, 2020

Web of Science 12 Crossref 13

Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous café-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and neoplastic manifestations. The clinical features of NF1 increase in frequency with age, while the clinical diagnosis can remain undetermined in some pediatric patients. Importantly, affected patients...

DOI: https://doi.org/10.3345/cep.2020.00871

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