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<i>De novo MAP2K4</i> variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons

2025-12-27

Abstract excerpt

MAP2K4 encodes a kinase that activates the c-Jun N-terminal kinase (JNK) pathway, which is essential for human neurodevelopment. While somatic MAP2K4 loss has been observed in cancer, germline variants have not previously been linked to human disease. We describe ten individuals with de novo or presumed de novo MAP2K4 variants who present with a novel syndromic neurodevelopmental disorder. Shared features includ...

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Identifiers and source

Literature Corpus work
138104da-44e9-595c-9106-1e92c71eb7ac
DOI
10.64898/2025.12.23.25342932
Open publication

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