Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation.
10.5385/jksn.2011.18.2.374
- Author:
Sung Woo KIM
1
;
So Eun PARK
;
In Hyuk JEONG
;
Jeong Won YOON
;
Cho Ae LEE
;
Ji hyun JEON
Author Information
1. Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea. g-daughter@hanmail.net
- Publication Type:Case Report
- Keywords:
Noonan syndrome;
KRAS gene mutation
- MeSH:
Genetic Association Studies;
Heart Diseases;
Humans;
Infant, Newborn;
Korea;
Noonan Syndrome;
Parturition
- From:Journal of the Korean Society of Neonatology
2011;18(2):374-378
- CountryRepublic of Korea
- Language:Korean
-
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.
