Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges.
Shunyakova J; Reynolds M; Taylor A; Sieck EG; Walsh JT; Hassman LM · 2025 · Frontiers in ophthalmology
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract (excerpt)
Background Retinal 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…
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Metadata source: Europe PMC · DOI 10.3389/fopht.2025.1535805