Shih-Sheng Chen

Early Severe Moyamoya Disease Due to a Monoallelic RNF213 Variant in Monozygotic Twins

Moyamoya disease (MMD) is an arteriopathy causing pediatric ischemic stroke and is characterized by progressive stenosis of the intracranial internal carotid arteries. Although genetic risk factors have been identified, the pathogenesis of MMD remains incompletely understood, and significant gaps persist in linking gen...