Article
A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.
Brain and behavior - 1 Dec 2023
Liu Xinting, Chen Chen, Wan Lin, Zhu Gang, Zhao Yan, Hu Lizhu, Liang Yan, Gao Jing, Wang Jing, Yang Guang
Abstract excerpt
INTRODUCTION: Sotos syndrome (SS) is an overgrowth disease characterized by distinctive facial features, advanced bone age, macrocephaly, and developmental delay is associated with alterations in the NSD1 gene. Here, we report a case of a 4-year-old female child with SS caused by NSD1 gene nonsense mutation. METHODS: Whole-exome sequencing (WES) was applied for probands and her parents. Sanger sequencing was used...
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