①
Rare variants in TULP3 abolish the suppressive effect on sonic hedgehog signaling and contribute to human neural tube defects
TULP3基因中的罕见变异会消除对sonic hedgehog信号的抑制作用，并导致人类神经管缺陷
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原文链接：
https://www.sciencedirect.com/science/article/pii/S2352304221001604
引用这篇文章：
Kuang L, Jiang Y, Chen S, et al. Rare variants in TULP3 abolish the suppressive effect on sonic hedgehog signaling and contribute to human neural tube defects. Genes Dis. 2022;9(5):1174-1177.
②
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID).
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原文链接：
https://www.sciencedirect.com/science/article/pii/S2352304221001562
引用这篇文章：
Chen Y, Tang X, Liu L, et al. Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID). Genes Dis. 2022;9(5):1166-1169.
③
Pathological and genetic characteristics in the proband of family.
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原文链接：
https://www.sciencedirect.com/science/article/pii/S2352304221001239
引用这篇文章：
Li J, Zhu L, Li Y, Huang H, Huang K, Deng A. Two novel and one known pathogenic germline mutations in MMRs in Chinese families with Lynch syndrome. Genes Dis. 2022;9(2):292-295.
④
Clinical information and Sanger validation results of the patient.
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原文链接：
https://www.sciencedirect.com/science/article/pii/S2352304222002835
引用这篇文章：
Feng M, Yu X, Yue Y, Zhong J, Wang L. Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome. Genes Dis. 2023;10(3):743-745.
⑤
Compound heterozygous mutations in the UGDH gene caused decreased enzymatic activity, interruption of the cell cycle, small brain and neuronal loss in zebrafish F0 crispant.
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原文链接：
https://www.sciencedirect.com/science/article/pii/S2352304223000016
引用这篇文章：
Shu L, Xie G, Mei D, et al. Biallelic mutations in UGDH cause congenital microcephaly. Genes Dis. 2023;10(5):1816-1819.
编辑：张虹
排版：郑健
审核：Genes & Diseases 编辑部
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