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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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wolters Kluwer Medknow Publications
2024-11-01
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| Col·lecció: | Indian Journal of Ophthalmology. Case Reports |
| Matèries: | |
| Accés en línia: | https://journals.lww.com/10.4103/IJO.IJO_935_24 |
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