Ophthalmic Findings Associated with NEDD4L-related Disorder

Pathogenic variants in the NEDD4L gene are associated with a very rare neurodevelopmental disorder characterized by periventricular nodular heterotopia, developmental delay, 2-3 toe syndactyly, and cleft palate. Ophthalmic findings associated with this disorder have not been well described in litera...

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Veröffentlicht in:	Journal of AAPOS 2022-06, Vol.26 (3), p.164-167
Hauptverfasser:	Santilli, Christopher, Aggarwal, Anjali, Dailey, Christina, McClelland, Collin
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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