Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

• Principais autores: Ruken Yıldırım (Autor), Edip Ünal (Autor), Şervan Özalkak (Autor), Akçahan Akalın (Autor), Ayça Aykut (Autor), Nevzat Yılmaz (Autor)
• Formato: Livro
• Publicado em: Galenos Yayincilik, 2024-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

INTRODUCTION: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximatel...