Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome

Nevus sebaceous syndrome (NSS) is a rare, multisystem neurocutaneous disorder, characterized by a congenital nevus, and may include brain malformations such as hemimegalencephaly or focal cortical dysplasia, ocular, and skeletal features. It has been associated with several eponyms including Schimme...

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Detalles Bibliográficos
Autores principales: Green, Timothy E., MacGregor, Duncan, Carden, Susan M., Harris, Rebekah V., Hewitt, Chelsee A., Berkovic, Samuel F., Penington, Anthony J., Scheffer, Ingrid E., Hildebrand, Michael S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751419/
https://www.ncbi.nlm.nih.gov/pubmed/34649968
http://dx.doi.org/10.1101/mcs.a006133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751419/
https://www.ncbi.nlm.nih.gov/pubmed/34649968
http://dx.doi.org/10.1101/mcs.a006133

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