ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
Williams, Lloyd, Asif Javed, Amin Sabri, Denise Morgan, Chad Huff, John Grigg, Xiu Ting Heng, et al. 2019. “ALPK1 Missense Pathogenic Variant in Five Families Leads to ROSAH Syndrome, an Ocular Multisystem Autosomal Dominant Disorder”. Genet Med 21 (9): 2103-15.