Clinical and Experimental Pediatrics

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Eungu Kang

1 Article

Review Article

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 18 Crossref 21

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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Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders

Human milk macronutrient composition and intake in relation to preterm infant growth: a cohort study

Classification of neurocognitive impairment in pediatric drug-resistant focal epilepsy by quantifying seizure-affected brain network abnormalities in clinical diffusion-weighted imaging connectome

Effects of induction-phase acute kidney injury and age at diagnosis on chronic kidney disease in pediatric acute lymphoblastic leukemia: a time-to-event cohort study

Context-dependent features of transcriptomic landscapes in pregnant mother-neonate dyads of preeclampsia

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