Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation
Journal of the Korean Society of Neonatology
;
: 374-378, 2011.
Article
in Korean
| WPRIM
| ID: wpr-59453
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parturition
/
Genetic Association Studies
/
Heart Diseases
/
Korea
/
Noonan Syndrome
Limits:
Humans
/
Infant, Newborn
Country/Region as subject:
Asia
Language:
Korean
Journal:
Journal of the Korean Society of Neonatology
Year:
2011
Type:
Article
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