A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance
Journal article published in 2018 by
Siren Berland,
Trine L. Toft-Bertelsen,
Ingvild Aukrust,
Jan Byska,
Marc Vaudel 
,
Laurence A. Bindoff,
Nanna MacAulay,
Gunnar Houge
,
Laurence A. Bindoff,
Nanna MacAulay,
Gunnar Houge
