Article

A Rare Gene Mutation Disorder With Fever To Be Detected

2023-09-07

Abstract excerpt

<title>Abstract</title> <p>ROSAH syndrome(1) is an autosomal dominant disorder caused by mutations in ALPK1. Its clinical manifestations are mainly retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis and migraine. In this article, we aim to provide detailed information that will help further our understanding of the different symptoms and manifestations of ROSAH syndrome. It also emphasizes the importa...

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Literature Corpus work: 270031ff-377b-560e-a86b-50c4f155b3ed
DOI: 10.21203/rs.3.rs-3300107/v1

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