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

• Päätekijät: Dulika Sumathipala (Tekijä), Petter Strømme (Tekijä), Christian Gilissen (Tekijä), Ingunn Holm Einarsen (Tekijä), Hilde J. Bjørndalen (Tekijä), Andrés Server (Tekijä), Jordi Corominas (Tekijä), Bjørnar Hassel (Tekijä), Madeleine Fannemel (Tekijä), Doriana Misceo (Tekijä), Eirik Frengen (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2020-05-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Abstract Background Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing followed by muscular hypotonia, psychomotor delay, and cerebellar ataxia...