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Ophthalmic manifestations of ROSAH syndrome - A case report

Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache (ROSAH) syndrome is an autosomal dominant disorder, and genome-wide sequencing has identified the ALPK1 gene as the cause of this rare systemic ocular disorder.[1] We report a unique case of ROSAH syndrome with genetic posi...

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Detaylı Bibliyografya
Asıl Yazarlar: Sudha K Ganesh, A Anshukita, Saloni Desai, Muna Bhende, S Sripriya
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications 2024-11-01
Seri Bilgileri:Indian Journal of Ophthalmology. Case Reports
Konular:
Online Erişim:https://journals.lww.com/10.4103/IJO.IJO_935_24
Etiketler: Etiketle
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