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

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. Cerebr...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:BMC Med Genet
Autors principals: Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Einarsen, Ingunn Holm, Bjørndalen, Hilde J., Server, Andrés, Corominas, Jordi, Hassel, Bjørnar, Fannemel, Madeleine, Misceo, Doriana, Frengen, Eirik
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7204034/
https://ncbi.nlm.nih.gov/pubmed/32381069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01024-y
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars