A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.
Kaburagi K, Hagiwara Y, Tachikawa K, Miyake N, Akiyama H, Kawai Y, Omae Y, Tokunaga K, Yamano Y, Shimizu T, Mitsuhashi S.
Kaburagi K, et al.
BMC Neurol. 2024 Apr 11;24(1):119. doi: 10.1186/s12883-024-03619-x.
BMC Neurol. 2024.
PMID: 38605286
Free PMC article.
Brain magnetic resonance imaging (MRI) showed evidence of embolic stroke, abdominal computed tomography (CT) showed visceral heterotaxy, and echocardiogram showed cardiac anomaly with right-to-left-shunt (RLS). Whole genome sequencing (WGS) revealed a heterozygous missense …
Brain magnetic resonance imaging (MRI) showed evidence of embolic stroke, abdominal computed tomography (CT) showed visceral heterotaxy, and …