A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associated CdLS with a novel SMC1A truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable seizures from 40 months of age. A review of the liter...

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Detalles Bibliográficos
Autores principales: Chinen, Yasutsugu, Nakamura, Sadao, Kaneshi, Takuya, Nakayashiro, Mami, Yanagi, Kumiko, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513828/
https://www.ncbi.nlm.nih.gov/pubmed/31098032
http://dx.doi.org/10.1038/s41439-019-0053-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513828/
https://www.ncbi.nlm.nih.gov/pubmed/31098032
http://dx.doi.org/10.1038/s41439-019-0053-y

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