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

• Main Authors: Ruken Yıldırım (Author), Edip Ünal (Author), Şervan Özalkak (Author), Akçahan Akalın (Author), Ayça Aykut (Author), Nevzat Yılmaz (Author)
• Format: Book
• Published: Galenos Yayincilik, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...