A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1

Neurofibromatosis type 1 (NF1) is one of the most common hereditary neurocutaneous disorders. Here, we report a unique case of a patient with typical NF1 findings and infantile spasms who had three possibly pathogenic de novo variants, c.3586C>T, p.(Leu1196Phe) and c.3590C>T, p.(Ala1197Val) in...

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Detalles Bibliográficos
Autores principales: Watanabe, Kazuki, Kubota, Kazuo, Nakashima, Mitsuko, Saitsu, Hirotomo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665374/
https://www.ncbi.nlm.nih.gov/pubmed/37993422
http://dx.doi.org/10.1038/s41439-023-00256-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665374/
https://www.ncbi.nlm.nih.gov/pubmed/37993422
http://dx.doi.org/10.1038/s41439-023-00256-7

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