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...

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Detalles Bibliográficos
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:
Original Article
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

Internet

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

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