%0 Journal Article
%T ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
%J -
%D 2019
%R https://doi.org/10.1038/s41436-019-0476-3
%X To identify the molecular cause in five unrelated families with a distinct autosomal dominant ocular systemic disorder we called ROSAH syndrome due to clinical features of retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache
%U https://www.nature.com/articles/s41436-019-0476-3