Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

by Dulika Sumathipala, Petter Strømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo, Eirik Frengen
Published 2020-05-01