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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Veröffentlicht in:Cold Spring Harbor molecular case studies 2021-12, Vol.7 (6), p.a006133
Hauptverfasser: 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
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