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Article

INTS11-related neurodevelopmental disorder: a case report and literature review.

Journal of human genetics - 1 Dec 2024

Jiang Lihua, Wang Yilong, Zhang Weiqin, Zhang Xin, Gao Feng, Yuan Zhefeng

Abstract excerpt

BACKGROUND: INTS11 is a critical catalytic component of the Integrator complex that regulates RNA polymerase II termination and modulates gene expression. Until recently, INTS11 mutations were associated with human neurodevelopmental disorders, characterized by global developmental and language delays, generalized hypotonia, and progressive brain atrophy. CASE: We report the case of a 2-year-old Chinese girl who...

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PMID: 39030370
DOI: 10.1038/s10038-024-01276-z

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