Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

BACKGROUND: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS‐like) do not have an identifi...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Aguilera, Cinthia, Gabau, Elisabeth, Laurie, Steve, Baena, Neus, Derdak, Sophia, Capdevila, Núria, Ramirez, Ariadna, Delgadillo, Veronica, García‐Catalan, Maria Jesus, Brun, Carme, Guitart, Miriam, Ruiz, Anna
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6382443/
https://ncbi.nlm.nih.gov/pubmed/30548424
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.511
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