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Neonatal Med > Volume 18(2); 2011 > Article
Journal of the Korean Society of Neonatology 2011;18(2):374-378.
DOI: https://doi.org/10.5385/jksn.2011.18.2.374    Published online November 25, 2011.
Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation.
Sung Woo Kim, So Eun Park, In Hyuk Jeong, Jeong Won Yoon, Cho Ae Lee, Ji hyun Jeon
Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea. g-daughter@hanmail.net
Abstract
Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed with gene study. The genotype-phenotype correlations have been reported. We report a newborn with KRAS gene mutation. This is the second report of case with KRAS gene mutation in Korea. So we hope this case will be a help to diagnosis and treatment of Noonan syndrome from birth.
Key Words: Noonan syndrome, KRAS gene mutation


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