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...
Uloženo v:
| Hlavní autoři: | , , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wolters Kluwer Medknow Publications
2025-09-01
|
| Edice: | Oman Journal of Ophthalmology |
| Témata: | |
| On-line přístup: | https://journals.lww.com/10.4103/ojo.ojo_80_25 |
| Tagy: |
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|