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Novel mutation identified in Cowden syndrome presenting as a gastric adenocarcinoma

✍ Scribed by Marques, Margarida; Ramalho, Rosa; Baldaque-Silva, Francisco; Macedo, Guilherme


Book ID
123325674
Publisher
Elsevier
Year
2013
Tongue
French
Weight
427 KB
Volume
37
Category
Article
ISSN
2210-7401

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## Abstract Noonan syndrome (NS) is the most common non‐chromosomal syndrome seen in children and is characterized by short stature, dysmorphic facial features, chest deformity, a wide range of congenital heart defects and developmental delay of variable degree. Mutations in the Ras/mitogen‐activat