Neurofibromatosis type I: points to be considered by general pediatricians.
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ABSTRACT:
SUBMITTER: Kang E
PROVIDER: S-EPMC8024119 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Publications
Neurofibromatosis type I: points to be considered by general pediatricians.
Kang Eungu E Yoon Hee Mang HM Lee Beom Hee BH
Clinical and experimental pediatrics 20200715 4
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 are at risk for developing tumors of the central and ...[more]
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