Cargando…
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
Cohen syndrome (CS) is a rare multisystem autosomal recessive disorder associated with mutations in VPS13B (vacuolar protein sorting homolog 13B). The NAPB-related neurodevelopmental disorder is characterized mainly by early-onset epileptic encephalopathy (EOEE) and is associated with mutations in N...
Autores principales: | AbdelAleem, Alice, Haddad, Naim, Al-Ettribi, Ghada, Crunk, Amy, Elsotouhy, Ahmed |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10063482/ https://www.ncbi.nlm.nih.gov/pubmed/36780047 http://dx.doi.org/10.1007/s10048-023-00710-2 |
Ejemplares similares
-
A Novel Variant in VPS13B Underlying Cohen Syndrome
por: Hussain, Abrar, et al.
Publicado: (2023) -
A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
por: Razavi, Alireza, et al.
Publicado: (2021) -
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
por: Zorn, Malte, et al.
Publicado: (2022) -
Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
por: Kang, Li, et al.
Publicado: (2023) -
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
por: Rejeb, Imen, et al.
Publicado: (2017)