Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies

25 veebruar, 2026

Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies

Stefania Kalampokini, Dimitrios G. Goulis, Georgia Pepe, Stavrenia Koukoula, Antonis Frontistis, Maria Moschou, Marianthi Arnaoutoglou, Vasileios Papaliagkas and Vasilios K. Kimiskidis

OTSING

Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies