Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges
BackgroundRetinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache (ROSAH) syndrome is an autosomal dominant disorder caused by a heterozygous missense mutation in alpha kinase 1 (ALPK1). This series reports the presentation and treatment outcomes of three first-degree relatives...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Frontiers Media S.A.
2025-03-01
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| Edice: | Frontiers in Ophthalmology |
| Témata: | |
| On-line přístup: | https://www.frontiersin.org/articles/10.3389/fopht.2025.1535805/full |
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