Report of one case with de novo mutation in TLK2 and literature review

Abstract TLK2 variants were identified as the cause for several neurodevelopmental disorders by impacting brain development. The incidence of mutation in TLK2 is low, which has common clinical features with other rare diseases. Herein, we reported a 5-year-old boy with TLK2 heterozygous mutation who...

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Main Authors: Han-Yue Li (Author), Chun-Ming Jiang (Author), Ruo-Yan Liu (Author), Chao-Chun Zou (Author)
Format: Book
Published: BMC, 2024-11-01T00:00:00Z.
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3rd Floor Main Library

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