J. Clin. Immunol. 2020 Jan 14
Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.
Zhong L, Wang J, Wang W, Wang L, Quan M, Tang X, Gou L, Wei M, Xiao J, Zhang T, Sui R, Zhou Q, Song H
ROSAH syndrome was recently identified as an autosomal dominant systemic disorder due to mutations in ALPK1. It was characterized by retinal dystrophy ...
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Source: PubMed
