مقال بحثي وصول مفتوح
Optic nerve changes in PTPN11-related Noonan syndrome
Characteristic features of Noonan syndrome include dysmorphic facies, short stature, and congenital cardiac defects. Pathogenic variants in PTPN11 are one of the common causes and may result in optic nerve head anomalies. We describe the optic nerve findings in two families with Noonan syndrome due to pathogenic varian …