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The eye as a window: Early diagnosis of Waardenburg-Shah syndrome in a neonate

Waardenburg-Shah syndrome (Waardenburg syndrome type 4/ WS4), a subtype of Waardenburg syndrome (WS), is a rare neurocristopathy characterized by a constellation of pigmentary anomalies, sensorineural hearing loss and Hirschsprung disease. Ocular manifestations such as iris hypochromia and choroidal...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ratnapriya Srivastava, Sanket Vinubhai Davra
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Wolters Kluwer Medknow Publications 2026-01-01
Cyfres:Indian Journal of Ophthalmology. Case Reports
Pynciau:
Mynediad Ar-lein:https://journals.lww.com/10.4103/IJO.IJO_1796_25
Tagiau: Ychwanegu Tag
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