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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...

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Váldodahkkit: Tarek Saad Shoala, Linda M. Reis, Jenina Capasso, Elena Semina, Alex V. Levin
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Wolters Kluwer Medknow Publications 2025-09-01
Ráidu:Oman Journal of Ophthalmology
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Liŋkkat:https://journals.lww.com/10.4103/ojo.ojo_80_25
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