The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene
Y Sznajer, B Keren, C Baumann, S Pereira… - …, 2007 - publications.aap.org
OBJECTIVE. Noonan syndrome is a clinically homogeneous but genetically heterogeneous
condition. Type 1 Noonan syndrome is defined by the presence of a mutation in the PTPN11
gene, which is found in∼ 40% of the cases. Phenotype descriptions and cardiac defects
from cohorts with Noonan syndrome were delineated in the “pregenomic era.” We report the
heart defects and links to gene dysfunction in cardiac development in a large cohort of
patients with type 1 Noonan syndrome. METHODS. This was a retrospective, multicenter …
condition. Type 1 Noonan syndrome is defined by the presence of a mutation in the PTPN11
gene, which is found in∼ 40% of the cases. Phenotype descriptions and cardiac defects
from cohorts with Noonan syndrome were delineated in the “pregenomic era.” We report the
heart defects and links to gene dysfunction in cardiac development in a large cohort of
patients with type 1 Noonan syndrome. METHODS. This was a retrospective, multicenter …